Term
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Definition
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Term
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Definition
| Blood pH falls below 7.35 |
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Term
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Definition
| Mitochondrial Disease; defect in the meachanism that controls mitochondrial oxygen utilization. Symptoms include eneral weakness, excessive perspiration, a high caloric intake wihtout increase in body weight and an excessively elevated basal metabolic rate |
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Term
| Causes of Mitochondrial Diseases |
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Definition
| mutations of mtDNA and nuclear DNA, damage to mtDNA from free radicals |
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Term
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Definition
| abnormality in which uric acid is produced in excecss, leading to an increase of uric acid in blood and deposition of urate crystals in joints. |
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Term
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Definition
| inflammation, pain, swelling, and increased warmth of some joints, particularly the big toe |
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Term
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Definition
| phagocytosed by cells in the joint and accumulate in digestive vacuoles that contain lysosomal enzymes; cause physical damage to the vacuoles, releasing lysosomal hydrolyases into the cytosol, can lead to digestion of cellular components |
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Term
| Human Lysosomal Acid Lipase |
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Definition
| hydrolyzes triacylglycerol into free fatty acids and glycerol, and cholesteryl esters to free cholesterol and fatty acids |
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Term
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Definition
| Cholesteryl ester storage disease; causes hypercholerolemia, hapatomegaly, and early onset of severe athersclerosis; able to hydrolyze triacylglycerol but not cholesteryl esters. |
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Term
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Definition
| manifested in infants; fatal by age one; no hLAL activity, both triacylglycerol and cholesteryl accumulate in tissues |
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Term
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Definition
| responsible for synthesis of gylcerol esters, shortening very long chain fatty acids and oxidation of the side chail of cholesterol needed for bile acid. |
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Term
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Definition
| Peroxisome Biogenesis Disorders characterized by liver, kidney, brain and skeletal system abnormalities; decreases levels of glycerol ether lipids and increases levels of long chain fatty acids and cholestanoic acid derivative (precursor to bile acids) |
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Term
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Definition
| lack of f(x) peroxisomes; death occurs by 6 months; there is a genetic defect in the mechanism for importing enzymes into the matrix of peroxisomes |
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Term
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Definition
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Term
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Definition
| bind to specific proteins and trigger the initiation of aptosis; transmembrane proteins with intracellular domains, termed death domains. When activated the death receptor activates caspase 8 and 9 which then activate other caspases and eventually hydrolyze very specific cellular proteins that lead to the diassembly of the cell. |
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Term
| Aptosis by Intracellular Stress |
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Definition
| releases cytochrome c from mitochondira, along with Apaf-1, activates caspase 9 intitiating the protein cascade and aptosis |
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Term
| Aptosis by Intracellular Stress |
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Definition
| releases cytochrome c from mitochondira, along with Apaf-1, activates caspase 9 intitiating the protein cascade and aptosis |
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Term
| Insulins used in treatment of Diabetes |
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Definition
| Pig and cow; pig is more closely related differing in only one position from human insulin |
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Term
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Definition
| variant form of Hemoglobin in which a nonconservative substitution occurs in the sixth position of the B-globin chain of HbA1. glutamic acid is replaced by valine in HbS. (Polar group for Nonpolar group)--> sickle shape |
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Term
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Definition
| Sickle shaped red blood cells (caused by homozygous HbS gene) that easily clog small capillaries. Heterozygotes do not demonstrate symptoms of the disease. |
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Term
| Heterozygotic Individuals for HbS |
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Definition
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Term
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Definition
| less acidic than HbA therefore it does not migrate as rapidly toward the anode as HbA--> diagnosis of sickle cell anemia |
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Term
| Ehles-Danlos syndrome, Osteogenesis imperfecta, scurvy |
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Definition
| diseases caused by abnormal collagen |
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Term
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Definition
| most abundant protein the the human body |
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Term
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Definition
| disorders of the rate of synthesis and clearance of lipoproteins from the bloodstream. |
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Term
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Definition
| due to accumulation of chylomicrons; two genetic known forms 1. lipoprotein lipase deficiency 2. ApoC-II deficiency. Patients have exceedingly high plasma triacylglycerol concentrations and suffer from eruptive xanthomas (deposits on skin) and pancreatitis. |
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Term
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Definition
| elevated LDL levels, heterozygotes show higher levels, homozygote levels are very high and may cause MI before age 20 |
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Term
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Definition
| abnormalities of ApoE, which interferes with the uptake of chylomicron and VLDL remnants |
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Term
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Definition
| most commmon abnormality. VLDL levels are high due to obesity, alcohol abuse or diabetes. |
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Term
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Definition
| similar to type I with high chylomicron triacylgycerol, panreatitis, and xanthomas |
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Term
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Definition
| a genetic disease characterized by absence of chylomicrons, VLDLs and LDLs due to the inability to synthesize apolipoprotein B-100. Patients show accumulatin of lipid droplets in small intestinal cells, malabsorption of fat, acanthocytosis, and neurological disease. |
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Term
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Definition
| alpha-lipoprotein deficiency; autosomal recessive disease; HDL levels are 1-5% of normal levels; may lead to splenomegaly and hepatomegaly; plasma cholesterol and phospholipids are greatly reduced. |
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Term
| Cholesterol acyltransferase |
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Definition
| deficiency of enzyme lecithin that results in the production of lipoprotein X |
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Term
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Definition
| glycosylated hemoglobin formed by comvinatin of the NH2 termial and glucose. Changes in [] can be used to determine effectiveness of diabetes treatments in patients. (high levels of glucose--> high levels of HbA1c) |
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