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12 Cards in this Set
- Front
- Back
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WHat is the defect in marfan syndrome?
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Fibrillin which is important in a-helical structures and found in the ECM and patients usually have problem in the ligaments and aorta so they have long extremities, fingers, arachnodactyly and predisposition to dissecting aorta
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What causes Creutzheldt-Jakib disease?
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its a prion disease in where a defect alter the normal a-helical arrangement of the prion protein and changes them to b-sheets pts- jerky involentary movement and deteriorating dementia
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What are homeobox proteins?
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they are Transcription factors which contain helix- turn-helix motifs and they play a crucial role in pattern development during development of the limbs and other body parts and disruptions of protein DNA- results in congenital malformations
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What are heat shock proteins?
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Are a group of chaperons. and mutation in these proteins leads to human disease. like CharcotMarie-tooth disease which is the most common inherited neuromuscular disease
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What causes alpha-antitrypsin deficienc? (AAT)
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Caused by a mutation in this protein (AAT) which causes it to get trapped int he cell and lead to patients which have a decrease in levels of protease inhibitors so they get cirrhosis and emphysema
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What causes Huntingtons disease?
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Results from the expansion of a region of polyglutamine repeats within the huntington protein and so the protein aggrgates and forms intranuclear inclusions resulting in neuronal cell death. patients present with progressive movement disorders and dementia
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what does misfolded protein aggregate form? and what diseases are formed from them?
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b-pleated sheet and leads to amyloidopathies aka amyloidosis like beta-amyloid which causes alzheimer disease
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What is the mutation that ovvurs in sicle cell anemia?
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the b-chain of hemoglobin contain a valine rather than glutamate at position 6. Thus the mutant hemoglobin (HbS) a hydrophobic AA replace an AA with a negative charge. This change allows deoxygenated molecules of HbS to polymerize. So this give RBCs the sickle apearance. you get hemolysis and anemia and vaso-occlusive crises and result in end organ failure
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what causes osteogenesis imperfecta?
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group of related disorders in the synthesis of type I collagen which has a widerange of clinical consequence multiple fractures and have blue sclera
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WHat are the main components of collagen?
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1/3 - glycine in gly-x-y and X is usually proline and y can be hydroxyproline and also proline and lysine residues are hydroxylates by o2 and require Vit C
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where is collagen synthesized
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rER are preprocollagen
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What are the Ehlers-Danlos syndromes characterized by? what is the defect in type VI?
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Defect in the synthesis or structure of collagen and type VI results in a defect in the enzyme lysyl hydroxylase they have hyper-extensible skin
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