Term
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Definition
| any disease resulting from deficiency of any mitochondrial-located portein which is involved in energy metabolism |
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Term
Kearns-Sayre Syndrome (KSS)
(etiology and features) |
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Definition
Etiology:
majority are spontaneous, mitochondrial or autosomal
Features:
deficient growth, drooping eyelids, visual impairment, progressive hearing loss, muscle wasting, impaired cognitive function, dilated cardriomyopathy |
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Term
Tay-Sachs Disease
(etiology, forms, features) |
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Definition
Etiology:
mutation in Hex A gene (causes build up of ganglioside in lysosome, progressive destruction of nerve cells)
Forms:
infantile - blindness, deafness, death by 3
juvenile - onset between 2-10, similar to infantile, progresses slower
chronic - onset childhood, dysarthria, dystonia, choreoathetosis, ataxia, and unsteady gait
adult - present with muscle wasting, 40% have psychiatric manifestations |
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Term
I-cell Disease
(etiology, features) |
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Definition
Etiology:
defect in targeting lysosomal enzyme that adds M6P (misdirects lysosomal enzymes, stuff builds up in lysosomes -> inclusion bodies)
Features:
abnormalities of face/skull, growth delays, mental retardation |
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Term
Hutchinson-Gilford progeria syndrome
(etiology, features, treatment) |
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Definition
Etiology: mutation of lamin A (creates improperly processed progerin, which accumulates in cells, destabilizes nuclear structure --> blebs)
Features: parallels aging process (advanced), failure to grow, delayed dentition, hair loss, sclerodermatous skin
Tx: rapamycin |
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Term
Peroxisome Biogenesis Disorders (PBDs)
(etiology, symptoms, example diseases) |
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Definition
Etiology:
mutant Pex1,6,or26 --> ZSS
mutant Pex7 --> RCDP
Symptoms: liver disease, variable neurodevelopmental delay, retinopathy, perceptive deafness
Ex: Zellweger syndrome, Neonatal adrenoleukodystrophy (NALD), Infantile Refsum's disease (IRD), Rhizomelic chondroplasia (RCDP) |
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Term
Single Enzyme Deficiencies (PEDs)
(etiology, example diseases) |
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Definition
Etiology: mutations in specific peroxisomal enzyme encoding genes
Examples: primary hyperoxaluria (PH1), X-linked adrenoleukodystrophy |
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Term
Primary Hyperoxaluria Type 1
(etiology, result) |
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Definition
Etiology: mutation in alanine:glyoxylate aminotransferase (AGT), causes hepatic defect in glyoxylated metabolism, due to decrease/loss of AGT activity
large load of kidney stones result from oxylate build up --> renal failure |
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Term
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Definition
transport dietary triglycerides and cholesterol absorbed by intestinal epithelia
composed mostly of triacylglycerol |
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Term
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Definition
transport endogenously derived triglycerols to extra-hepatic tissues
composed mostly of triacylglycerol; some phospholipid, protein, and cholesterol) |
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Term
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Definition
primary plasma carriers of cholesterol for delivery to all tissues
composed mostly of cholesterol, protein and phospholipid; some triacylglycerol |
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Term
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Definition
removes cholesterol from tissues and returns it to liver
composed most of protein, then some phospholipids, some cholesterol, and very little triacylglycerol |
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Term
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Definition
formed as triacyglycerols are removed from VLDLs
fate of IDLs is either conversion to LDL or direct uptake by liver |
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Term
| Familial hypercholesterolemia Classes |
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Definition
Class 1: most common, complete lack of LDL synthesis
Class 2: mutations prevent proper transport to Golgi for needed modifications
Class 3: results in LDL receptor incapable of binding LDL
Class 4: results in LDL receptor that does not cluster into coated pits
Class 5: results in receptors that don't recycle properly (don't unbind LDL) |
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Term
| Familial hypercholesterolemia treatments |
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Definition
diet: low unsat./sat. fat, protein, cholesterol
exercise: dec. LDL and inc. HDL
quit smoking: smoking lower HDL
moderate alcohol: EtOH raises HDL
statins: inhibit HMG-CoA
nicotinic acid: inhibit VLDL secretion by liver and adipose LDL secretion
fibrates: activates lipoprotein lipase |
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Term
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Definition
| point of even distribution of a substance across a membrane; when there is no net movement of particles across the membrane |
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Term
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Definition
| difference between high and low concentrations across a membrane |
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Term
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Definition
| physical property; to be repelled by water; measured by partition coefficient |
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Term
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Definition
measure of relative affinity of a substance for lipid versus water
higher coefficient means more lipid soluble
K = C(m)/C(aq) |
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Term
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Definition
accounts for membrane thickness (x), diffusion coefficient (D), and solubility of solute in membrane
P=KD/x |
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Term
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Definition
| rate of diffusion across the bilayer for a given substance |
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Term
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Definition
dn/dt = PA[C1(aq)-C2(aq)]
can be simplified for biological purposes to KA[C1(aq)-C2(aq)] |
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Term
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Definition
| hydrostatic pressure required to stop the net osmotic flow across a membrane |
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Term
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Definition
| water tends to move from a solution of low solute conc. to one of higher solute conc. |
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Term
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Definition
| determined by conc. of impermeable particles of solution; osmoles/kilogram of solvent |
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Term
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Definition
| used to describe the osmolality of solution relative to another (e.g. cytoplasm) |
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Term
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Definition
| solution has same osmolality of cytoplasm |
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Term
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Definition
solution with greater osmolality than cytoplasm
cells shrink when placed in this type of solution |
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Term
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Definition
solution with lesser osmolality than cytoplasm
cells swell when placed in this type of solution |
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Term
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Definition
causes maladaptive switch in channel gene expression
sodium channels are turned off/on and results in neurons spontaneously firing
can cause pain |
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Term
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Definition
lack sensory neuron-specific sodium channels in Perkinje cells of cerebellum
cerebellum is responsible for coordination and motor control |
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Term
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Definition
affect KCNQ potassium channels in outer hair cells
reduces hearing at essentially all frequencies |
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Term
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Definition
served with improperly prepared meal of puffer fish
blocks voltage-gated sodium channels --> blocks action potentials |
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Term
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Definition
reduced expression or lack of function AQP2
diabetes insipidus
renal failure |
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Term
| water retention disorders |
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Definition
increased expression or enhanced membrane targeting of AQP2
severe congestive heart failure
pregnancy |
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Term
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Definition
transport ions
alpha-catalytic subunit and beta-regulatory
costs 1ATP generally
Ex: Na+/K+ ATPase |
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Term
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Definition
transport protons
three transmembrane and five extrinic polypeptides
create 3ATP for each 3H+ passed down conc. gradient (roates 120* with each H+) |
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Term
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Definition
transport protons
three transmembrane and five extrinsic polypeptides
maintain low pH in acidic vesicles |
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Term
| ABC superfamily ATP pumps |
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Definition
transport small molecules and ions (ions, sugars, peptides, polysaccharides, proteins)
two transmembrane and two cytosolic-ATP binding domains |
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Term
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Definition
have defective CFTR (cholride channel) in lungs
results in thick, sticky mucus linig that blocks small airways and hinders normal bacterial removal |
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Term
| Ouabin and Digitalis effects |
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Definition
increase force of heart contraction
block Na+/K+ exchanger -> keep intracellualr Na+ high -> reduce efficacy of Na+/Ca2+ exchanger -> longer period of high Ca2+ conc. -> longer contraction |
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Term
| Glucose-Galactose Malabsorption (GGM) |
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Definition
characterized by neonatal onset of watery and acidic diarrhea
must remove glucose and galactose from diet permanently
can still have fructose |
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Term
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Definition
sequence at N-terminus
hydrophobic core near basic residues
followed by cleavage site for signal peptidase |
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Term
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Definition
N-terminus in lumen, C-terminus in cytoplasm
one transmembrane portion
Ex: LDL receptor, insulin receptor |
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Term
| Integral Membrane Type II |
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Definition
N-terminus in cytoplasm, C-terminus in lumen
one transmembrane portion |
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Term
| Integral Membrane Type III |
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Definition
nubbin of N-terminus in lumen, C-terminus in cytoplasm
does not use translation signal to target for ER lumen
one transmembrane portion
Ex: cytochrome P450 |
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Term
| Integral Membrane Type IV |
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Definition
N-terminus in lumen, C-terminus in cytoplasm
several transmembrane portions
Ex: G-protein coupled receptors |
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Term
| Wolcott-Rallison Syndrome |
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Definition
associate with loss of Perk
Perk usually shuts of proteins synthesis via eIF2 phosphorylation when ER stressed out
leads to built up of misfolded proteins in ER |
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Term
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Definition
class of disease in which certain proteins become structurally abnormal
disrupts function of cells, tissues, and organs |
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Term
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Definition
coats vesicles in retrograde movement
cis-Golgi to ER |
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Term
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Definition
coats vesicles in anterograde movement
ER to cis-Golgi |
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Term
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Definition
| coats vesicles bound for fusion with late endosomes |
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Term
| Transcriptional activation domain |
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Definition
domain of a nuclear hormone receptor
Functions to modulate the transcription of target |
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Term
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Definition
Nuclear hormone receptor domain
Consists of two zinc fingers that bind to the DNA segment
DBD also helps with dimerization of receptors |
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Term
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Definition
| DNA sequence to which the DBD of a nuclear hormone binds |
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Term
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Definition
Domain of nuclear receptor
Flexible domain that connects DBD and LBD |
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Term
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Definition
Domain of nucelar hormone receptor
Alpha helical sandwich folds consisting of 8 helix motifs
Binds ligand, coactivators, and/or corepressors
Activation acticity of this domain upregulates TAD activity
Also aids in dimerization |
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Term
| Steroid hormone receptors |
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Definition
Estrogen
Progesterone
Aldosterone
Glucocorticoid
Mineralocortacoid |
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Term
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Definition
Excress glucocorticoid
Inhibits bone formation, suppress calcium absorption, delayed wound healing, muscle weakness, increased risk of infection |
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Term
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Definition
Insufficient glucocorticoid
Muscle weakness/fatigue, weight loss, decreased appetite, darkening of skin, low blood pressure, salt craving, fainting, low blood sugar |
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Term
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Definition
Selective estrogen receptor modulator
Antagonist to breast; used to treat breast cancer
Agonist for bone and uterus |
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Term
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Definition
Progesterone receptor antagonist used to abort pregnancies
72 hr pill |
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Term
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Definition
Selective estrogen receptor modulator
Agonist in bone; antagonist in breast/uterus
Increases bone density |
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Term
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Definition
Toxin causes whooping cough
blocks g-proteins from interacting with receptors
Go anf Gt: this decreases cAMP
Gi: this increases cAMP |
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Term
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Definition
Toxin that permanently ribosylates G-alpha-s
C
Results in constitutive production of cAMP
Rapid dehydration results from loss of ions to intestinal lumen |
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Term
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Definition
GRB protin domain of adaptor proteins for RTK receptors
Binds phosphotyrsine |
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Term
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Definition
Domain of adaptor proteins (GRB2) for RTK signaling
Binds phosphotyrosine of activated receptor or other protein |
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Term
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Definition
Domain of adaptor protein for RTK
Binds to proline rich segments of proteins |
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Term
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Definition
Domain of adaptor protein for RTK
Binds phosphoinositol |
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Term
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Definition
| Ultimatelt results in tissue stabilization and growth inhibition through altered gene expression |
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Term
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Definition
Uses MAP kinase casecade to alter gene expression to promote cell proliferation
Uses PLC to activate PKC
Activates PKB to prevent apoptosis |
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Term
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Definition
Made of G-actin subunits
Forms helix
Func to form microvilli, cell cortex, adheren belts, filopodia, leading edge, stress fibers, and contractile ring |
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Term
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Definition
Epithelial cell structure
Formed by parallel bundles of actin filaments |
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Term
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Definition
Migrating and endothelial cell structure
Formed by meshwork network of actin filaments just inside the PM
Serves structural and tansport role |
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Term
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Definition
Endothelial cell structure
Formed by actin filaments at the apical cell surface, can be contractile |
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Term
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Definition
Miigrating cell structure
Formed by actin at very front of cell and extends PM
Plays a chemical sensory role |
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Term
| Leading edge (lamellipodium) |
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Definition
Migrating cell structure
Formed by actin to make a dense network that polymerizes and pushes cell forward |
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Term
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Definition
Adherent cell structure
Thick fibers of actin |
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Term
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Definition
Dividing cell structure
Made of actin, luke a purse string that divides the daughter cells |
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Term
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Definition
| Binds G-actin and helps maintain a high local conc. of monomers at (+) end of actin filament |
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Term
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Definition
Regenerates GTP-boynd monomers for actin assembly
Acts as a GEF |
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Term
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Definition
| Breaks up actin filaments near (-) end where ATP has already been hydrolyzed |
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Term
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Definition
| Nucleation site for new brach od actin filament off the side of existing F-actin |
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Term
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Definition
| Cross links two actin filaments to support microvilli and filopodia structure |
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Term
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Definition
| Binds two actin filaments to form loose gels or meshwork, e.g. cell cortex |
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Term
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Definition
| Links F-actin and membrane proteins to form netwotk underlying PM |
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Term
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Definition
| Links F-actin to membranenproteins, especially in muscle cells |
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Term
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Definition
Mutations in WASp which promotes Arp2/3
Defective immunological synapse |
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Term
| Periventricular heterotapia |
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Definition
Mutations in filamin
Late-onset epilepsy because neural cells dont migrate properly durinf development |
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Term
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Definition
Mutations in spectrin
Spectrin plays key role in structure of RBC
Hemolytic anemia results |
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Term
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Definition
Dystrophin mutations
Defect in actin cytoskeleton of muscle
Fragile cell membrane and bmp progressive muscle weakness |
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Term
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Definition
Class 1 IF subunit
Epithelial cells: tissue steength and integrity
Part of desmosomes and hemidesmosomes |
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Term
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Definition
Class 5 IF subunits
Nucleus: nuclear structure and organization |
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Term
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Definition
Class 2 IF subunit
Epithelial cells: tissue strength and integrity
Part of desmosomes and hemidesmosomes |
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Term
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Definition
Class 3 IF subunit
Muscle cells: sarcomere organization and integrity |
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Term
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Definition
Class 3 IF subunit
Glial cells |
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Term
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Definition
Class 3 IF subunit
Mesenchymal cells |
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Term
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Definition
Class 4 IF subunits
Neurons: axon organization |
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Term
| Basal, suprabasal and superficial layer keratins |
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Definition
Basal: 5 & 14
Suprabasal: 1 & 10
Superficial: 2 & 9 |
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Term
| Epidermolysis bullosa simplex |
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Definition
Blistering skin disease
Mutation in keratin 5 or 14
Compromised basal layer of epidermis |
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Term
| Bullous congenital ischthyosiform erythroderma |
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Definition
Blistering skin disease
Mutation in K10 or 1
Compromised suprabasal layer of epidermis |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
primary component of basal lamina
contains multiple domains that can simultaneously interact with other ECM components and receptors on cell surface |
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Term
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Definition
important component of connective tissue
bound by integrins on cell surfaces and by other ECM components |
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Term
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Definition
unbranched polysaccharide chains composted of repeating diasaccharide units (one uronic acid and one amino sugar)
highly anionic -> attracts water to make cushioning gel |
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Term
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Definition
| GAGs covalently bonded to protiens |
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Term
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Definition
GAG that is not bound to protein
found on exterior or PM
associates with aggrecan and accounts for cushioning properties of cartilage |
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Term
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Definition
| proteoglycan that is very large and accounts for cushioning of cartilage by associating with hyaluronan |
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Term
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Definition
x-linked defect in collagen IV
defect in basal lamina of kidneys that acts as a filter
leads to renal failure
increased protein levels in urine` |
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Term
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Definition
CAM: occludin, claudins
linker: ZO-1
filament: actin |
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Term
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Definition
CAM: cadherins
linker: catenins
filament: actin |
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Term
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Definition
CAM: desmoglein, desmocolin
linker: plakoglobin
filament: IFs |
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Term
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Definition
CAM: integrins
linker: a-actinin, vinculin, talin
filament: actin |
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Term
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Definition
CAM: integrin alpha6,beta4
linker: plectin plaque
filament: keratin (IF) |
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Term
| Hereditary hypomagnesaemia |
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Definition
defect in claudin of tight junction
results in defective paracellular reabsorption of Mg2+ in kidney |
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Term
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Definition
| gene associated with cadherin molecules that is frequently mutated in invasive cancers |
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Term
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Definition
autoimmune disease
anti-bodies against desmosomal proteins
skin blistering disease |
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Term
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Definition
doublets of microtubule structure
cilia can have motor or sensory function
flagella has motor function |
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Term
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Definition
triplets of microtuble strucutres
basal bodies made from centrioles, nucleation site for axoneme MTs |
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Term
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Definition
| paired centrioles surrounded by other material to form TURC-ring |
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Term
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Definition
| scaffold for alpha and beta-tubulin to to begin polymerization |
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Term
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Definition
stabilizes MT structure and prevents catastrophes
abundant in neurons - stabilize MTs in axons and dendrites |
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Term
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Definition
stabilizes curved protafilament ends of MTs
results in depolymerization of MTs |
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Term
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Definition
uses ATP hydrolysis to force protofilaments apart
results in destabilization of MTs |
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Term
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Definition
activates polarization of MT cytoskeletone
orients whole MT cytoskeleton structure in direction of movment
also activates Arp2/3 complex of actin cytoskeleton |
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Term
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Definition
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Definition
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Definition
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