Term
| DNA is stored in what formed in the nucleus? |
|
Definition
|
|
Term
| What forms nucleosome "beads" in chromatin? |
|
Definition
| DNA looped around postiviely charged histones |
|
|
Term
| What histone ties nucleosome beads together? |
|
Definition
|
|
Term
| What is unique about the histone H1? |
|
Definition
| Only histone not in the nucleosome core |
|
|
Term
| What is the name for condensed, transcriptionally inactive, sterically inaccessible DNA? |
|
Definition
|
|
Term
| What is the name for less condensed, transcriptionally active, sterically accessible DNA? |
|
Definition
|
|
Term
| How many histones make up a nucleosome? |
|
Definition
|
|
Term
| What histones make up the nucleosome core? |
|
Definition
| 2 sets of H2A, H2B, H3, H4 |
|
|
Term
| Which nucleotides are purines? |
|
Definition
| Adenine, Guanine (mnemonic: PURe As Gold) |
|
|
Term
| What nucleotides are pyrimidines? |
|
Definition
| Cytosine, Uracil, Thymine (mnemonic: CUT the PY) |
|
|
Term
| Deamination of cytosine makes what nucleotide? |
|
Definition
|
|
Term
| What amino acids are necessary for purine synthesis? |
|
Definition
| Glycine, Aspartate, Glutamine |
|
|
Term
| What is the purine precursor in de novo synthesis? |
|
Definition
|
|
Term
| What is the pyrimidine precursor in de novo synthesis? |
|
Definition
| Orotate with PRPP added later |
|
|
Term
| What pathways involve carbamoyl phosphate? |
|
Definition
| De novo pyrimidine synthesis and the urea cycle |
|
|
Term
| Ornithine transcarbamoylase deficiency in the urea cycle leads to an accumulation of what? |
|
Definition
|
|
Term
| Excess carbamoyl phosphate is converted to what? |
|
Definition
|
|
Term
| Methotrexate inhibits what? |
|
Definition
|
|
Term
| Orotic aciduria causes what conditions? |
|
Definition
| Megaloblastic anemia, increased orotic acid in urine |
|
|
Term
| Orotic aciduria results from a defect in what step of de novo pyrimidine synthesis? |
|
Definition
| Conversion of orotic acid to UMP |
|
|
Term
| What enzymes are deficient in orotic aciduria? |
|
Definition
| orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxylase |
|
|
Term
| What is the mode of inheritence for orotic aciduria? |
|
Definition
|
|
Term
| Adenosine deaminase deficiency causes what disease? |
|
Definition
| SCID = Severe Combined Immunodeficiency Disease |
|
|
Term
| Adenosine deaminase deficiency causes excess ATP and dATP, preventing what? |
|
Definition
| DNA synthesis, results in decreased lymphocyte count |
|
|
Term
| Defective purine salvage due to the absence of HGPRT is characteristic of what disease? |
|
Definition
|
|
Term
| What is the mode of inheritence for Lesch-Nyhan syndrome? |
|
Definition
|
|
Term
| What is the function of HGPRT? |
|
Definition
| Converts hypoxanthine to IMP and guanine to GMP in the purine salvage pathway |
|
|
Term
| What are the "features" of the genetic code? |
|
Definition
| Unambiguous (1 codon = 1 amino acid), redundant (more than 1 codon may code for same amino acid), comaless (read from fixed starting point), universal (genetic code is conserved throughout evolution) |
|
|
Term
| What are exceptions to the universal feature of the genetic code? |
|
Definition
| mitochondria, archaebacteria, mycoplasma, some yeasts |
|
|
Term
| What kind of mutation does not result in the translation of a different amino acid? |
|
Definition
|
|
Term
| What kind of mutation leads to the translation of a different amino acid? |
|
Definition
|
|
Term
| What kind of mutation creates an early stop codon? |
|
Definition
|
|
Term
| What kind of mutation results in a misreading of all nucleotides downstream from the change? |
|
Definition
|
|
Term
| A particular sequence in the genome where DNA replication begins is known as what? |
|
Definition
| Origin of replication (single in prokaryotes, multiple in eukaryotes) |
|
|
Term
| Leading and lagging strands are synthesized at what location along the DNA template? |
|
Definition
|
|
Term
| What unwinds DNA at the replication fork? |
|
Definition
|
|
Term
| DNA supercoils are relieved by what? |
|
Definition
|
|
Term
| What enzyme creates a RNA primer on which DNA polymerase III can initiate replication? |
|
Definition
|
|
Term
| What DNA polymerase is found only in prokaryotes? |
|
Definition
|
|
Term
| Which proofreads synthesized DNA in prokaryotes? |
|
Definition
|
|
Term
| What degrades RNA primers and fills in gaps with DNA in prokaryotes? |
|
Definition
|
|
Term
| What seals DNA fragments during DNA synthesis? |
|
Definition
|
|
Term
| Okazaki fragments are found in what? |
|
Definition
|
|
Term
| DNA is synthesized in what direction? |
|
Definition
|
|
Term
| A specific endonucleases being used to release damaged bases in order to allow DNA polymerase and ligase to fill and reseal the gap describes what kind of repair? |
|
Definition
| Nucleotide excision repair |
|
|
Term
| A specific glycosylase being used to recognize and remove a single damaged base to be replaced describes what kind of repair? |
|
Definition
|
|
Term
| What is the most abundant type of RNA? |
|
Definition
|
|
Term
| What is the mRNA start codon? |
|
Definition
|
|
Term
| The start codone AUG codes for what in eukaryotes? |
|
Definition
|
|
Term
| What are the mRNA stop codons? |
|
Definition
| UGA, UAA, UAG (mnemonic: U Go Away, U Are Away, U Are Gone) |
|
|
Term
| The site where RNA polymerase and multiple other transcription factors bind to DNA upstream from the gene locus is called what? |
|
Definition
|
|
Term
| What are the promoters found in eukaryotes? |
|
Definition
|
|
Term
| The stretch of DNA that alters gene expression by binding transcription factors is known as what? |
|
Definition
|
|
Term
| Sites where negative regulators (repressors) bind on genes is know as what? |
|
Definition
|
|
Term
| What is the function of RNA polymerase I? |
|
Definition
| rRNA synthesis in eukaryotes |
|
|
Term
| What is the function of RNA polymerase II? |
|
Definition
| mRNA synthesis in eukaryotes |
|
|
Term
| What is the function of RNA polymerase III? |
|
Definition
| tRNA synthesis in eukaryotes |
|
|
Term
| What other function does RNA polymerase have other than mRNA synthesis? |
|
Definition
| Opens DNA at promoter site |
|
|
Term
| What is the function of RNA polymerase in prokaryotes? |
|
Definition
| Only RNA polymerase complex in prokaryotes, produces all 3 kinds of RNA |
|
|
Term
| What is alpha-amanitin and its effects? |
|
Definition
| Found in death cap mushrooms, inhibits RNA polymerase II, lethal |
|
|
Term
| What are the steps of RNA processing in eukaryotes? |
|
Definition
1. 5' cap
2. 3' Poly-A tail
3. Splicing out of introns |
|
|
Term
| What must occur before RNA is transported out of nucleus? |
|
Definition
|
|
Term
| Antibodies to spliceosomal snRNPs are found in what disease? |
|
Definition
|
|
Term
| The coding segments of DNA are known as what? |
|
Definition
|
|
Term
| The non-coding segments of DNA are known as what? |
|
Definition
|
|
Term
| What is tthe function of snRNPs? |
|
Definition
| Forms spliceosomes in order to join exons |
|
|
Term
| What is bound to the 3' end of tRNA? |
|
Definition
|
|
Term
| What enzyme is responsible for the accuracy of amino acid selection during protein synthesis? |
|
Definition
| Aminoacyl-tRNA synthetase |
|
|
Term
| Accuracy of base pairing is dependent on which nucleotides in an mRNA codon? |
|
Definition
|
|
Term
| GTP hydrolysis and initiation factors perform what function in protein synthesis? |
|
Definition
| Assembling of 40S ribosomal subunit with initiator tRNA |
|
|
Term
| tRNA binds to what site on ribosomes? |
|
Definition
|
|
Term
| Translated codons are translocated to what part of the ribosome? |
|
Definition
|
|
Term
| Translated codons are translocated to where on the ribosome? |
|
Definition
|
|
Term
| What is the energy requirement for translation? |
|
Definition
|
|
Term
| Inactive enzyme precursors are known as what? |
|
Definition
|
|
Term
| What is used to tag defective proteins for breakdown? |
|
Definition
|
|
Term
| Covalent alterations of proteins include what? |
|
Definition
| Phosphorylation, glycosylation, hydroxylation |
|
|
Term
| Cell cycles are regulated by what factors? |
|
Definition
| Cyclin-dependent kinases, cyclins, tumor suppressors |
|
|
Term
| Which cellular organelle is the site of steroid synthesis and detoxification of poisons and drugs? |
|
Definition
|
|
Term
| The distribution center of proteins and lipids from the ER to the plasma membrane, lysosome, and secretory vesicles describes what organelle? |
|
Definition
|
|
Term
| What other function does the golgi apparatus serve other than lipid and protein distribution? |
|
Definition
| Protein modification, proteoglycan assembly, protein insertion into membranes |
|
|
Term
| The failure of addition of mannose-6-phosphate to lysosome proteins resulting in lysosomal storage disorder and high plasma levels of lysosomal enzymes describes what disease? |
|
Definition
|
|
Term
| What disease results in male and female infertility, recurrent sinusitis, and bronchiectasis due to dynein arm defect induced immotile cilia? |
|
Definition
| Kartagener's syndrome, associated with situs inversus |
|
|
Term
| High amounts cholesterol or long saturated fatty acid in plasma membranes has what effect? |
|
Definition
| Increases melting temp, decreases fluidity |
|
|
Term
| What is the most abundant protein in the human body? |
|
Definition
|
|
Term
| Mnemonic for collagen types: Be So Totally Cool, Read Books |
|
Definition
| Type I = Bone, Skin, Tendon, Type II = Cartilage, Type III = Reticulum, Type IV = Basement membrane/basal lamina |
|
|
Term
| Type I collagen forms what structures? |
|
Definition
|
|
Term
| Type II collagen forms what structures? |
|
Definition
|
|
Term
| Type III collagen forms what structures? |
|
Definition
|
|
Term
| Type IV collagen forms what structures? |
|
Definition
| Basement membrane or basal lamina |
|
|
Term
| What makes up collagen alpha chain sub-units? |
|
Definition
| Gly-X-Y polypeptide (X and Y are proline, hydroxyproline, or hydroxylysine) |
|
|
Term
| What cofactor is required for the hydroxylation of specific collagen proline and lysine residues? |
|
Definition
|
|
Term
| Where does collagen hydroxylation and glycosylation occur? |
|
Definition
|
|
Term
| Where are collagen alpha chains synthesized? |
|
Definition
|
|
Term
| A triple helix of 3 collagen alpha-chains prior to modification is known as what? |
|
Definition
|
|
Term
| Cleavage of terminal regions of procollagen transforms it into what? |
|
Definition
|
|
Term
| What steps of collagen synthesis occur outside the cell? |
|
Definition
| Cleavage of terminal regions of procollagen into tropocollagen and cross linking into collagen fibrils |
|
|
Term
| How are collagen fibrils formed outside of the cell? |
|
Definition
| Staggered covalent lysine-hydroxylysine cross-linkage of tropocollagen |
|
|
Term
| Hyperexteinsible skin, easy brusing, and hypermobile joints caused by faulty collagen synthesis, usually type III, is characteristic of what disease? |
|
Definition
|
|
Term
| Brittle bone disease most commonly associated with abnormal type I collagen leading to easily fractured bones, blue sclerae, and dental imperfections due to a lack of dentin characterizes what disease? |
|
Definition
|
|
Term
| Osteogenesis imperfecta most commonly displays what pattern of inheritence? |
|
Definition
|
|
Term
| Abnormal type IV collagen resulting in progressive hereditary nephritis and deafness is characteristic of what disease? |
|
Definition
|
|
Term
| Alport's syndrome most commonly displays what pattern of inheritance? |
|
Definition
|
|
Term
| The stretchy protein within lungs, large arteries, elastic ligaments, vocal cords, that is rich in proline and glycine and uses fibrillin as scaffolding is known as what? |
|
Definition
|
|
Term
| Elastin is broken down by elastase which is inhibited by what? |
|
Definition
|
|
Term
| Marfan's syndrome is caused by a defect in what protein? |
|
Definition
|
|
Term
| Alpha-1-antitrypsin deficiency can result in what? |
|
Definition
| Excess elastase activity causing emphysema |
|
|
Term
| The molecular biology laboratory procedure commonly used to amplify desired fragments of DNA is known as what? |
|
Definition
| Polymerase Chain Reaction (PCR) |
|
|
Term
| What are the 3 steps of PCR? |
|
Definition
| Denaturation, Annealing, Elongation |
|
|
Term
| What occurs during the denaturation step of PCR? |
|
Definition
| Heat denatures DNA to generate 2 separate strands |
|
|
Term
| What occurs during the annealing step of PCR? |
|
Definition
| During cooling, excess premade DNA primers anneal to specific sequences on strands to be amplified |
|
|
Term
| What occurs during the elongation step of PCR? |
|
Definition
| Heat stable DNA polmerase replicates the DNA sequence following each primer |
|
|
Term
| How are different sized DNA fragments separated for PCR amplification? |
|
Definition
| Agarose gel electrophoresis |
|
|
Term
| What blotting procedure is used to sequence DNA? |
|
Definition
|
|
Term
| What blotting procedure is used to sequence RNA? |
|
Definition
|
|
Term
| What blotting procedure is used to label and identify proteins? |
|
Definition
|
|
Term
| What technique is used to profile gene expression levels or to detect single nucleotide polymorphisms (SNPs)? |
|
Definition
|
|
Term
| What is used to rapidly test for antigen-antibody reactivity? |
|
Definition
| Enzyme-linked immunosorbent assay (ELISA) |
|
|
Term
| Using flourescent DNA or RNA probes to bind to specific genes of interest is called what? |
|
Definition
| Flourescence in situ hybridization (FISH) |
|
|
Term
| The process in which metaphase chromosomes are stained, ordered, and numbered according to morphology, size, arm-length ratio, and banding pattern is known as what? |
|
Definition
|
|
Term
| Imprinting is defined as what? |
|
Definition
| Differences in phenotype are dependant on maternal or paternal origin of mutation |
|
|
Term
| Prader-Willi and Angelman's syndrome are dependant on what type of heritability? |
|
Definition
|
|
Term
| If a patient inherits or develops a mutation in a tumor suppressor gene, what must occur before cancer can develop? |
|
Definition
| Complementary allele must be deleted/mutated (2 hit hypothesis) |
|
|
Term
| The phenomenon where cells in the body have differing genetic makeups is known as what? |
|
Definition
|
|
Term
| Mosaicism in females often occurs as a result of what process? |
|
Definition
|
|
Term
| An offspring receiving 2 copies of a chromosome from 1 parent and no copies from the other parent is known as what? |
|
Definition
|
|
Term
| Prader-Willi syndrome is a result of what mutation? |
|
Definition
| Deletion of normally active paternal allele, an example of imprinting |
|
|
Term
| Angelman's syndrome is a result of what mutation? |
|
Definition
| Deletion of normally active maternal allele, an example of imprinting |
|
|
Term
| What mode of inheritence transmits diseases only through the mother? |
|
Definition
| Mitochondrial inheritance |
|
|
Term
| Which mode of inheritence has no male to male transmission? |
|
Definition
|
|
Term
| What autosomal dominant disease results in a cell signaling defect of fibroblast growth factor (FGF) receptor 3, resulting in dwarfism? |
|
Definition
|
|
Term
| What autosomal-dominant disease results in elevated LDL due to defective or absent LDL receptors with increased risk of myocardial infarction? |
|
Definition
| Familial hypercholesterolemia |
|
|
Term
| What autosomal dominant disorder is characterized by depression, dementia, and caudate atrophy due to low levels of GABA and ACh in the brain? |
|
Definition
|
|
Term
| Where is the mutation for Huntington's disease located? |
|
Definition
|
|
Term
| What kind of mutation results in Huntington's disease? |
|
Definition
| CAG repeats on chromosome 4 |
|
|
Term
| Marfan's syndrome displays what mode of inheritence? |
|
Definition
|
|
Term
| What autosomal dominant disease is characterized by cafe-au-lait spots, neural tumors, Lisch nodules, skeletal disorders, and increased tumor susceptibility? |
|
Definition
| Neurofibromatosis type 1 (aka von Recklinghausen's disease) |
|
|
Term
| Where is the mutation that causes Neurofibromatosis type 1 located? |
|
Definition
| Long arm of chromosome 17 |
|
|
Term
| What autosomal dominant disease is characterized by bilateral acoustic neuroma and juvenile cataracts? |
|
Definition
|
|
Term
| Where is the mutation that causes Neurofibromatosis type 2 located? |
|
Definition
|
|
Term
| What autosomal dominant disease is characterized by hemangioblastomas of the retina/crebellum/medulla, bilateral renal cell carcinomal, and other tumors? |
|
Definition
| von Hippel-Lindau disease |
|
|
Term
| What mutation causes Von Hippel-Lindau disease? |
|
Definition
| Deletion of VHL tumor suppressor gene on chromosome 3 |
|
|
Term
| What autosomal recessive disease results in a defective CL- channel that causes secretion of abnormally thick mucus that plugs lungs, the pancreas, and the liver? |
|
Definition
|
|
Term
| What mutation causes Cystic Fibrosis? |
|
Definition
| Defect in CFTR gene on chromosome 7, commonly a deletion of Phe 508. Causes abnormal protein folding and degradation of Cl- channel |
|
|
Term
| What can be used to treat Cystic Fibrosis? |
|
Definition
| N-acetylcysteine used to loosen mucous plugs |
|
|
Term
| G6PD deficiency follows what mode of inheritance? |
|
Definition
|
|
Term
| Hunter's syndrome follows what mode of inheritance? |
|
Definition
|
|
Term
| Albinism, glycogen storage diseases, mucopolysaccharidoses, phenylketonuria, sickle cell anemias, and thalassemias all share what mode of inheritance? |
|
Definition
|
|
Term
| What disease is characterized by accelerated muscle breakdown, weakness in pelvic girdle muscles, cardiac myopathy, and fibrofatty replacement of calf muscles? |
|
Definition
| Duchenne's muscular dystrophy |
|
|
Term
| What mutation causes Duchenne's muscular dystrophy? |
|
Definition
| X-linked frame shift mutation causing deletion of dystrophin gene |
|
|
Term
| What muscular dystrophy is similar to Duchenne's but less severe? |
|
Definition
| Becker's muscular dystrophy |
|
|
Term
| What X-linked disease affects the expression of the FMR1 gene and is associated with chromosomal breakage? |
|
Definition
|
|
Term
| What trinucleotide repeats can be seen in Fragile X syndrome? |
|
Definition
|
|
Term
| Trisomy 21 results in mental retardation, flat faces, promient epicanthal folds, is associated with an increased risk in Alzheimer's disease, and is commonly known as what? |
|
Definition
|
|
Term
| The overwhelming majority (95%) of down syndrome cases are due to meiotic nondisjunction. What are the minor causes of down syndrome? |
|
Definition
| Robertsonian translocation (4%) and Down mosaicism (1%) |
|
|
Term
| Trisomy 18 resulting in severe mental retardation, rocker bottem feet, clenched hands, prominent occiput, congenital heart disease, and early infant death is known as what? |
|
Definition
|
|
Term
| Trisomy 13 resulting in severe mental retardation, rocker bottom feet, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease, and early infant death is known as what? |
|
Definition
|
|
Term
| A genetic defect may arise when the long arm of 2 acrocentric chromosomes fuse at the centromere and the 2 short arms are lost. If the transolocation is unbalanced, developmental defects may occur. This phenomenon is known as what? |
|
Definition
| Robertsonian Translocation |
|
|
Term
| What disease exhibits symptoms such as microcephaly, moderate to severe mental retardation, high-pitched crying/mewing, epicanthal folds, and cardiac abnormalities? |
|
Definition
|
|
Term
| What mutation causes Cri-du-chat syndrome |
|
Definition
| Congenital microdeletion of short arm of chromosome 5 |
|
|
Term
| What disease is characterized by distinctive elfin facies, mental retardation, hypercaclemia, vit D sensitivity, well developed verbal skills, friendliness with strangers, and cardiovascular problems? |
|
Definition
|
|
Term
| What causes Williams syndrome? |
|
Definition
| Congenital microdeletion of long arm of chromosome 7 (regions include elastin gene) |
|
|
Term
| What are the fat soluble vitamins? |
|
Definition
|
|
Term
| What are the water soluble vitamins? |
|
Definition
|
|
Term
| Another name for Vit B1 is what? |
|
Definition
|
|
Term
Another name for Vit B2 is what?
|
|
Definition
|
|
Term
Another name for Vit B3 is what?
|
|
Definition
|
|
Term
Another name for Vit B5 is what?
|
|
Definition
|
|
Term
Another name for Vit B6 is what?
|
|
Definition
|
|
Term
Another name for Vit B12 is what?
|
|
Definition
|
|
Term
| Which B vitamins are stored in the liver? |
|
Definition
|
|
Term
| Which vitamin functions as an antioxidant, is a constituent of visual pigments, and is essential for normal differentiation of epithelial cells into specialized tissues? |
|
Definition
|
|
Term
| Retinol (Vit A) deficiency may result in what? |
|
Definition
| Night blindness, dry skin |
|
|
Term
| Why must a pregnancy test be done before isotretinoin is prescribed for severe acne? |
|
Definition
| Excess Vit A may result in birth defects such as a cleft palate or cardiac abnormalities |
|
|
Term
| Thiamine (Vit B1) is a cofactor for what enzymes? |
|
Definition
| Pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, transketolase, branched chain AA dehydrogenase |
|
|
Term
| What are the results of thiamine (Vit B1) deficiency? |
|
Definition
| Impaired glucose breakdown, ATP depletion, leads to Wernick-Korsakoff syndrome and beriberi |
|
|
Term
| Thiamine (Vit B1) deficiency may result from the excess consumption of what? |
|
Definition
|
|
Term
| Riboflavin (Vit B2) is a cofactor in what processes? |
|
Definition
| Oxidation and reduction such as in FADH2 |
|
|
Term
| Cheilosis (inflammation of the lips) and corneal vascularization is seen in what deficiency? |
|
Definition
| Riboflavin (Vit B2) deficiency |
|
|
Term
| Niacin (Vit B3) is a constiuent in what reactions? |
|
Definition
| Redox reactions, NAD+ and NAD+ |
|
|
Term
| What is required to synthesize Niacin (Vit B3)? |
|
Definition
|
|
Term
| Severe Niacin (Vit B3) deficiency leads to what symptoms? |
|
Definition
| Pellagra leading to diarrhea, dermatitis, and dementia |
|
|
Term
| Pantothenate (Vit B5) serves what function? |
|
Definition
| Essential component of CoA and fatty acid synthase |
|
|
Term
| Pantothenate (Vit B5) deficiency results in what symptoms? |
|
Definition
| Dermatitis, enteritis, alopecia, adrenal insufficiency |
|
|
Term
| What can induce a pyridoxine (Vit B6) deficiency? |
|
Definition
|
|
Term
| What is the function of pyridoxine (Vit B6)? |
|
Definition
| Cofactor in transamination, decarboxylation, glycogen phosphorylase, cystathionine synthesis, and heme synthesis. Required for niacin synthesis from tryptophan |
|
|
Term
| What is the function of Cobalamin (Vit B12)? |
|
Definition
| Cofactor for homocysteine methyltransferase and methylmalonyl-CoA mutase |
|
|
Term
| What results from Cobalamin (Vit B12) deficiency? |
|
Definition
| Macrocytic, megaloblastic anemia, neurologic symptoms, abnormal myelin, may result in irreversible nervous system damage |
|
|
Term
| What test is used to detect for the origin of the Cobalamin (Vit B12) deficiency? |
|
Definition
|
|
Term
| What is the active form of Folic acid? |
|
Definition
|
|
Term
| What is the function of folic acid? |
|
Definition
| Coenzyme for 1-carbon transfer/methylation reactions, important for synthesis of nitrogenous bases in DNA and RNA |
|
|
Term
| What drugs can cause a folic acid deficiency? |
|
Definition
| Phenytoin, Sulfonamides, MTX |
|
|
Term
| What is the most common vitamin deficiency in the US? |
|
Definition
|
|
Term
| What are the results of folic acid deficiency? |
|
Definition
| Macrocytic, megaloblastic anemia. No neurological symptoms are present. Can be caused by alcoholism and pregnancy. |
|
|
Term
| Intake of folic acid supplements in early pregnancy reduces the risk of what? |
|
Definition
|
|
Term
| What forms S-adenosyl-methionine (SAM)? |
|
Definition
|
|
Term
| What is the function of S-adenosyl-methionine (SAM)? |
|
Definition
| Transfer of methyl units, required for conversion of norepinephrine to epinephrine |
|
|
Term
| Regeneration of methionine (and thus S-adenosyl-methionine) is dependant on what? |
|
Definition
|
|
Term
| Biotin acts as a cofactor for what enzymes? |
|
Definition
| Adds 1-carbon groups in carboxylation enzymes for pyruvate carboxylase, acetyl-CoA carboxylase, propionyl-CoA carboxylase |
|
|
Term
| What factors can induce biotin deficiency? |
|
Definition
| Excessive ingestion of raw eggs, AVID in egg whites bind biotin |
|
|
Term
| What is the function of Vitamin C? |
|
Definition
| Antioxidant, also facilitates iron absorption (keeps it in Fe2+ reduced state), hydroxylation of proline and lysine in collagen synthesis, conversion of dopamine to NE |
|
|
Term
| Vit C deficiency causes what condition? |
|
Definition
| Scurvy - swollen gums, bruising, anemia, poor wound healing |
|
|
Term
| What form of Vit D is consumed in milk and formed in sun-exposed skin? |
|
Definition
|
|
Term
| What is the storage form of Vit D? |
|
Definition
|
|
Term
| What is the active form of Vit D? |
|
Definition
| 1,25-(OH)2 D3 (also known as calcitriol) |
|
|
Term
| What is the function of Vit D? |
|
Definition
| Increases intestinal absorption of calcium and phosphate, bone reabsorption |
|
|
Term
| Vit D deficiency causes what? |
|
Definition
| Rickets in children (bending bones), osteomalacia in adults (soft bones), hypocalcemic tetany |
|
|
Term
| Excess Vit D causes what? |
|
Definition
| Hypercalcemia, hypercalciuria, loss of appetite, stupor |
|
|
Term
| What is the function of Vit E? |
|
Definition
| Antioxidant, protects erythrocytes and membranes from free-radical damage (Vit E for Erythrocytes!) |
|
|
Term
| Vit E deficiency leads to what? |
|
Definition
| Erythrocyte fragility, hemolytic anemia, muscle weakness, neurodysfunction |
|
|
Term
| What is the function of Vit K? |
|
Definition
| Catalyzes gamma-carboxylation of glutamic acid residues on proteins associated with blood clotting, clotting factors II, VII, IX, X, and protein C and S |
|
|
Term
| How is Vit K synthesized? |
|
Definition
|
|
Term
| What is significant about warfarin? |
|
Definition
|
|
Term
| What is the function of zinc? |
|
Definition
| Essential for a large number of enzymes, formation of zinc fingers (transcription factor motif) |
|
|
Term
| What occurs as a result of zinc deficiency? |
|
Definition
| Delayed wound healing, hypogonadism, hair loss, dysgeusia, anosmia, predisposition to alcoholic cirrhosis |
|
|
Term
| What is the limiting reagent in ethanol metabolism? |
|
Definition
|
|
Term
| What are the actions of fomepizole? |
|
Definition
| Inhibits alcohol dehydrogenase |
|
|
Term
| What are the actions of disulfiram (antabuse)? |
|
Definition
| Inhibits acetaldehyde dehydrogenase, leads to acetaldehyde accumulation, attributes to hangover symptoms |
|
|
Term
| What are the two enzymes used in ethanol metabolism? |
|
Definition
| Alcohol dehydrogenase, acetaldehyde dehydrogenase |
|
|
Term
| What are the effects of ethanol metabolism on the NADH/NAD+ ratio? |
|
Definition
|
|
Term
| What are the efffects of ethanol metabolism on reactions in gluconeogenesis? |
|
Definition
| Diverts pyruvate to lactate and OAA to malate, inhibits gluconeogenesis, stimulates fatty acid synthesis |
|
|
Term
| Increased NADH/NAD+ ratio by action of ethanol metabolism has what effect on glucose level? |
|
Definition
| Inhibits gluconeogenesis, induces hypoglycemia |
|
|
Term
| What are the effects of ethanol metabolism on fatty acid synthesis? What are the consequences? |
|
Definition
| Increased FA synthesis, leads to hepatocellular steatosis (fatty liver) |
|
|
Term
| Protein malnutrition resulting in skin lesions, edema, liver malfunctions, decreased apolipoproteins due to liver malfunction, and common association with small children with swollen bellies describes what condition? |
|
Definition
|
|
Term
| Energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema describes what condition? |
|
Definition
|
|
Term
| Fatty acid oxidation, acetyl-CoA production, the TCA cycle, and oxidative phosphorylation occurs where? |
|
Definition
|
|
Term
| Glycolysis, FA synthesis, and the pentose phosphate pathway occurs where? |
|
Definition
|
|
Term
| Protein synthesis occurs where? |
|
Definition
|
|
Term
| Steroid synthesis occurs where? |
|
Definition
|
|
Term
| Heme synthesis, Urea cycle, and Gluconeogenesis occurs in what part of the cell? |
|
Definition
| Both cytoplasm and mitochondria |
|
|
Term
| What enzymes utilizes ATP to add high-energy phosphate groups onto substrates? |
|
Definition
|
|
Term
| What enzymes add inorganic phosphates onto substrates without using ATP? |
|
Definition
|
|
Term
| What enzymes remove phophate groups from substrates? |
|
Definition
|
|
Term
| What enzymes oxidize substrates? |
|
Definition
|
|
Term
| What enzymes add single carbons with the help of biotin? |
|
Definition
|
|
Term
| What is the rate determining enzyme in glycolysis? |
|
Definition
| Phosphofructokinase-1 (PFK-1) |
|
|
Term
| What is the rate determining enzyme in gluconeogenesis? |
|
Definition
| Fructose-1, 6-biphosphatase |
|
|
Term
| What is the rate determining enzyme in the TCA cycle? |
|
Definition
|
|
Term
| What is the rate determining enzyme in glycogen synthesis? |
|
Definition
|
|
Term
| What is the rate determining enzyme in glycogenolysis? |
|
Definition
|
|
Term
| What is the rate determining enzyme in the pentose phosphate pathway? |
|
Definition
| Glucose-6-phosphate dehydrogenase (G6PD) |
|
|
Term
| What is the rate determining enzyme in de novo pyrimidine synthesis? |
|
Definition
| Carbamoyl phosphate synthetase II |
|
|
Term
| What is the rate determining enzyme in de novo purine synthesis? |
|
Definition
| Glutamine-PRPP amidotransferase |
|
|
Term
| What is the rate determining enzyme in the urea cycle? |
|
Definition
| Carbamoyl phosphate synthetase I |
|
|
Term
| What is the rate determining enzyme in FA synthesis? |
|
Definition
| Acetyl-CoA Carboxylase (ACC) |
|
|
Term
| What is the rate determining enzyme in FA oxidation? |
|
Definition
| Carnitine acyltransferase I |
|
|
Term
| What is the rate determining enzyme in ketogenesis? |
|
Definition
|
|
Term
| What is the rate determining enzyme in cholesterol synthesis? |
|
Definition
|
|
Term
| How much net ATP is produced in anaerobic glycolisis per glucose? |
|
Definition
|
|
Term
| What are electron carriers? |
|
Definition
|
|
Term
| What are carriers of 1-carbon units? |
|
Definition
|
|
Term
| What are carriers of CH3 (methyl) groups? |
|
Definition
|
|
Term
| What catalyzes the phosphorylation of glucose to yield glucose-6-phosphate in glycolysis? |
|
Definition
| Hexokinase or glucokinase |
|
|
Term
| What inhibits hexokinase? |
|
Definition
|
|
Term
| What inhibits glucokinase? |
|
Definition
| No direct feedback inhibition |
|
|
Term
| Between hexokinase and glucokinase, which is induced by insulin? |
|
Definition
|
|
Term
| Which has a higher affinity (lower Km), hexokinase or glucokinase? |
|
Definition
|
|
Term
| Where is hexokinase found? |
|
Definition
|
|
Term
| Where is glucokinase found? |
|
Definition
| Liver and beta-cells in pancreas |
|
|
Term
| Which enzymes in glycolysis require ATP? |
|
Definition
| Hexokinase/glucokinase, Phosphofructokinase-1 |
|
|
Term
| What enzymes in glycolysis facilitate the production of ATP? |
|
Definition
| Phosphoglycerate kinase and pyruvate kinase |
|
|
Term
| RBCs are wholly dependant on what for energy? Why? |
|
Definition
| Glycolysis due to lacking mitochondria |
|
|
Term
| Excess pyruvate and alanine resulting in lactic acidosis implies what condition? |
|
Definition
| Pyruvate dehydrogenase deficiency, possibly due to alcoholism and B1 deficiency |
|
|
Term
| What process allows lactate generated during anaerobic metabolism to undergo hepatic gluconeogenesis to become a source of glucose for muscles and RBCs? |
|
Definition
|
|
Term
| What are the non ATP products of the TCA cycle per acetyl-CoA |
|
Definition
| 3NADH, 1FADH2, 2CO2, 1 GTP |
|
|
Term
| Rotenone, CN-, Antimycin A, and CO perform what actions? |
|
Definition
|
|
Term
| Oligomycin performs what actions? |
|
Definition
| Inhibits mitochondrial ATPase |
|
|
Term
| What are the irreversible enzymes in gluconeogenesis? |
|
Definition
| Pyruvate carboxylase, PEP carboxykinase, Fructose-1,6-bisphosphatase, Glucose-6-phosphatase |
|
|
Term
| What do odd-chain fatty acids yield that is not produced in even-chan FA metabolism? |
|
Definition
|
|
Term
| What is the primary source of NADPH? |
|
Definition
| Pentose phosphate pathway |
|
|
Term
| What are the key enzymes in the pentose phosphate pathway? |
|
Definition
| Glucose-6-P dehydrogenase and Transketolase |
|
|
Term
| Low levels of NADPH has what clinical effect? |
|
Definition
| Hemolytic anemia due to poor RBC defense against oxidizing agents |
|
|
Term
| How does NADPH help with the detoxification of free radicals and peroxides? |
|
Definition
| Keeps glutathione reduced |
|
|
Term
| What is the mode of inheritence for Glucose-6-phosphate dehydrogenase deficiency? |
|
Definition
|
|
Term
| What benefit is there to glucose-6-phosphate dehydrogenase deficiency? |
|
Definition
|
|
Term
| What creates heinz bodies? |
|
Definition
| Hemoglobin precipitation within RBCs |
|
|
Term
| Glucose-6-phosphate dehydrogenase deficiency results in low NADPH. What would indicate such a condition? |
|
Definition
|
|
Term
| What results from phagocytic removal of heinze bodies by macrophages? |
|
Definition
|
|
Term
| Hereditary deficiency of aldolase B results in what condition? |
|
Definition
|
|
Term
| What is the mode of inheritance for aldolase B deficiency? |
|
Definition
|
|
Term
| Fructose intolerance due to aldolase B deficiency has what effect on energy metabolism? |
|
Definition
| Frucotse-1-phosphate accumulates, causes a decrease in available phosphate, inhibits glycogenolysis and gluconeogenesis |
|
|
Term
| Essential fructosuria is caused by what? |
|
Definition
|
|
Term
| What is the mode of inheritance for essential fructosuria? |
|
Definition
|
|
Term
| What sign indicates essential fructosuria? |
|
Definition
| Fructose in blood and urine due to inability to absorb fructose |
|
|
Term
| What causes classic galactosemia? |
|
Definition
| Absence of galactose-1-phosphate uridyltransferase |
|
|
Term
| What accumulates in blood and urine in cases of galactokinase deficiency? |
|
Definition
|
|
Term
| Failure to track objects or develop a social smile, infantile cataracts, and galactose in the blood and urine indicates what? |
|
Definition
|
|
Term
| What is the alcohol form of stored glucose? |
|
Definition
|
|
Term
| What enzyme is required for the conversion of glucose to sorbitol? |
|
Definition
|
|
Term
| What converts sorbitol to fructose? |
|
Definition
|
|
Term
| What causes lactase deficiency? |
|
Definition
| Loss of brush-border enzyme, can be hereditary or age-dependent |
|
|
Term
| What is the form of amino acids found in proteins? |
|
Definition
|
|
Term
| What amino acids are found in histones? |
|
Definition
|
|
Term
| What are the acidic amino acids in the body? |
|
Definition
|
|
Term
| What are the basic amino acids in the body? |
|
Definition
|
|
Term
| What transports ammonium? |
|
Definition
|
|
Term
| What might be given in order to decrease ammonia levels? |
|
Definition
| Benzoate or phenylbutyrate, limited protein in diet |
|
|
Term
| Whatt are the effects of excess ammonia? |
|
Definition
| Depletion of alpha-ketoglutarate leading to TCA cycle inhibition |
|
|
Term
| What is the most common urea cycle disorder? |
|
Definition
| Ornithine transcarbamoylase deficiency (X-linked recessive) |
|
|
Term
| Excess carbamoyl phosphate leading to high orotic acid and an inability to eliminate ammonia might be caused by what? |
|
Definition
| Ornithine transcarbamoylase deficiency |
|
|
Term
| What is the function of MAO and COMT? |
|
Definition
| Breakdown of catecholamines |
|
|
Term
| What amino acid is essential due to phenylketonuria? |
|
Definition
|
|
Term
| What causes phenylketonuria? |
|
Definition
| Decreased phenylalanine hydroxylase or tetrahydrobiopterin cofactor |
|
|
Term
| What occurs as a result of maternal phenylketonuria? |
|
Definition
| Infant microcephaly, mental retardation, growth retardation, congenital heart defects |
|
|
Term
| Congenital deficiency of homogentisic acid oxidase causes what? |
|
Definition
|
|
Term
| Homogentisic acid oxidase is involved in what pathway? |
|
Definition
|
|
Term
| Deficiency of tyrosinase or defective tyrosine transportors results in what? |
|
Definition
|
|
Term
| What amino acid is essential for mealanin synthesis? |
|
Definition
|
|
Term
| Cystathionine synthase deficiency, decreased affinity of cystathione synthase, or homocysteine methyltransferase deficiency can all cause what? |
|
Definition
|
|
Term
| Hereditary defects of renal tubular amino acid transporters for cysteine, ornithine, lysine, and arginine causes what? |
|
Definition
|
|
Term
| What can cystinuria create in the kidneys? |
|
Definition
|
|
Term
| Blocked degradation of branched chane amino acids causes what disease? |
|
Definition
| Maple syrup urine disease |
|
|
Term
| What are the branched chain amino acids that cannot be degraded in maple syrup urine disease? |
|
Definition
| Ile, Leu, Val (I Love Vermont maple syrup) |
|
|
Term
| What blocks the degradation of branched chain amino acids in maple syrup urine disease? |
|
Definition
| Decreased alpha-ketoacid dehydrogenase |
|
|
Term
| What are the clinical effects of maple syrup urine disease? |
|
Definition
|
|
Term
| What autosomal-recessive disorder is characterized by defective neutral amino acid transporters on renal and intestinal epithelial cells? |
|
Definition
|
|
Term
| Hartnup disease can be indicated by what? |
|
Definition
| Tryptophan excretion in the urine, absorption from the gut, leads to pellagra |
|
|
Term
| Glucose-6-phosphatase deficiency is characteristic of what disease? |
|
Definition
|
|
Term
| Lysosomal alpha-1,4-glucosidase (acid maltase) deficiency is characteristic of what disease? |
|
Definition
|
|
Term
| Deficiency in debranching enzyme used in glycogen synthesis is characteristic of what disease? |
|
Definition
|
|
Term
| Skeletal muscle glycogen phosphorylase deficiency is characteristic of what disease? |
|
Definition
|
|
Term
| Von Gierke's disease displays what symptoms? |
|
Definition
| Glycogen storage disease, severe fasting hypoglycemia, high liver glycogen, high blood lactate, hepatomegaly |
|
|
Term
| Pompe's disease displays what symptoms? |
|
Definition
| Glycogen storage disease, cardiomegaly, can lead to early death |
|
|
Term
| Cori's disease displays what symptoms? |
|
Definition
| Glycogen storage disease, milder form of Von Gierke but with normal lactate levels, exhibits fasting hypoglycemia, liver glycogen, and hepatomegaly |
|
|
Term
| McArdle's disease displays what symptoms? |
|
Definition
| Glycogen storage disease, high muscle glycogen but inability to break it down, painful muscle cramps, myoglobinuria with strenuous exercise |
|
|
Term
| What is the most common lysosomal storage disease? |
|
Definition
|
|
Term
| An inability to transport long chain fatty acids into the mitochondria resulting in toxic accumulation is characteristic of what? |
|
Definition
|
|
Term
| What are the products of FA and amino acid metabolism in the liver? |
|
Definition
| Acetoacetate and beta-hydroxybutyrate |
|
|
Term
| Fruity breath is a sign of what? |
|
Definition
|
|
Term
| What is the source of energy within the first few seconds of strenuous exercise? |
|
Definition
| Stored ATP, creatine phosphate, anaerobic glycolysis |
|
|
Term
What is the source of energy within the first few minutes of strenuous exercise?
|
|
Definition
| Oxidative phosphorylation alongside stored ATP, creatine phosphate, anaerobic glycolysis |
|
|
Term
| What is the source of energy after a few hours of strenous exercise such as in a marathon run? |
|
Definition
| Glycogen and free FA oxidation, glucose is conserved for final sprinting |
|
|
Term
| What is the function of LCAT? |
|
Definition
| Esterification of cholesterol |
|
|
Term
| How long does it take for ketone bodies to become the main source of energy for the brain? |
|
Definition
|
|
Term
| What are the essential fatty acids? |
|
Definition
| Linoleic and linolenic acid, arachidonic acid if linoleic acid is absent |
|
|
Term
| What degrades dietary triglycerides in the small intestine? |
|
Definition
|
|
Term
| What degrades triglycerides circulating in chylomicrons and VLDLs? |
|
Definition
|
|
Term
| What degrades triglycerides in IDLs? |
|
Definition
|
|
Term
| What degrades triglycerides in adipocytes? |
|
Definition
|
|
Term
| What mediates transfer of cholesterol esters to other lipoprotein particles? |
|
Definition
| Cholesterol ester transfer protein (CETP) |
|
|
Term
| What is the function of Apo A-I? |
|
Definition
|
|
Term
| What is the function of Apo B-100? |
|
Definition
| Binds LDL receptor, mediates VLDL secretion |
|
|
Term
| What is the function of Apo C-II? |
|
Definition
| Cofactor for lipoprotein lipase |
|
|
Term
| What is the function of Apo B-48? |
|
Definition
| Mediates chylomicron secretion |
|
|
Term
| What is the function of Apo E? |
|
Definition
| Mediates lipid remnant uptake by liver |
|
|
Term
| What transports cholesterol from liver to tissues? |
|
Definition
|
|
Term
| What transports cholesterol from peripheral tissues to the liver? |
|
Definition
|
|
Term
| What delivers dietary triglycerides to peripheral tissues? |
|
Definition
|
|
Term
| Which lipoprotein is secreted by the liver and delivers hepatic triglycerides to peripheral tissues? |
|
Definition
|
|
Term
| What is formed by degraded VLDLs and delivers triglycerides and cholesterol to the liver where they are degraded to LDLs? |
|
Definition
|
|
Term
| What acts as a repository for apo C and apoE which are needed for chylomicron and VLDL metabolism? |
|
Definition
|
|
Term
| Lipoprotein lipase deficiency or altered apolipoprotein C-II characterizes what? |
|
Definition
|
|
Term
| I-hyperchylomicronemia causes plasma concentrations of what to rise? |
|
Definition
Chylomicrons, triglycerides, and cholesterol
|
|
|
Term
| Absence of LDL receptors causing accelerated atherosclerosis, tendon xanthomas, and corneal arcus is characteristic of what? |
|
Definition
| IIa-familial hypercholesterolemia |
|
|
Term
IIa-familial hypercholesterolemia causes an increase in plasma levels of what?
|
|
Definition
|
|
Term
| Hepatic overproduction of VLDLs causing pancreatis describes what disease? |
|
Definition
|
|
Term
| A hereditary inability to synthesize lipoproteins due to deficiencies in apoB-100 and apoB-48 describes what disease? |
|
Definition
|
|
