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10 Cards in this Set
- Front
- Back
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Set 02 Q: This disorder results from an alteration in the normal alpha helical arrangement of a neuronal protein, with conversion to a pathogenic B-pleated sheet conformation after exposure to an infectious agent
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Creutzfeld Jakob disease - believed that the conformation of the endogenous protein is altered by a proteinaceous infections agent known as a prion. Accumulation of the pathogenic form results in death of the affected neurons and the development of involuntary movements and increasing dementia
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Set 02 Q: This genetic disease is caused by the deletion of a phenylalanine residue at the 508th amino acid (deltaF508) of the transmembrane chloride ion channel (ATP gated). The absence of this residue causes abnormal folding and failure of glycosylation
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Cystic Fibrosis -one of the most common genetic diseases among whites, CF is due to mutations in the CF transmembrane regulator (CFTR) it produces viscous mucous secretions and recurrent, potentially fatal pulmonary infections. - Pseudomonas aeruginosa is most common cause of death - CFTR supposed to be modified in golgi so it can be targeted to cell surface- this never happens -normal CFTR causes Cl secretions in lungs/GI and reasbsorbs Cl from sweat - pancreatic insufficiency-> malabsorption and steatorrhea with meconium ileus in newborns - infertility in males due to lack of vas deferens -nonsweat glands show increase in Na and H20 absorption-> dehydrated mucus (thicker) and widened transepithelial potential
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Set 02 Q: These intracellular proteins act as molecular chaperones aiding in the proper folding of newly translated proteins
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Heat Shock Proteins - mutations in these proteins are found in some cases of Charcot Marie Tooth disease one of the most common heritable neuromuscular disorders
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Set 02 Q: Mutations in this important anti-protease lead to misfolded protein within the cell, resulting in a quantitative deficiency in the circulating protein, which is important in the remodeling of lung tissue
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Alpha antitrypsin (AAT) deficiency - patients present with panacinar emphysema of the lungs due to unchecked protease activity in the lung. They also develop cirrhosis of the liver - PAS and intracellular inclusions on histo
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Set 02 Q: This substance, produced by C cells of the thyroid, accumulates to form the B-pleated sheets known as amyloid in medullary carcinoma of the thyroid
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Calcitonin - this hormone, involved in calcium metabolism, is overproduced in medullary carcinoma of the thyroid. In at-risk populations, serum levels of calcitonin are used to screen for this type of cancer
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Set 02 Q: This substance contributes to the insoluble B-fibrils, or amyloid, that accumulate in the B cell malignancy multiple myeloma
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Immunoglobulin light chains (Bence Jones proteins found in urine) - immunoglobulin light chains produced in excess in multiple myeloma form the amyloid that accumulates in the kidney and heart, contributing to renal failure (myeloma kidney) and cardiomyopathy, both of which complicate the disease -will see an M spike on protein assay - pt: older, easy fatigability, constipation(hypercalcemia), bone pain, renal failure
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Set 02 Q: This disorder results from defects in the ability to add glucosylphosphatidylinositol (GPI) anchors [CD55 and CD59] posttranslationally to proteins destined to be covalently attached to the extracellular face of cell membranes
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Paroxysmal Nocturnal Hemoglobinuria (PNH) - major consequcne of this disorder is the inability to produced GPI anchored complement regulatory proteins on the surface of red blood cells. As a consequence patients develop bouts of hemolytic anemia with hemoglobinuria - Unregulated complement leads to lysis and hemolytic anemia - Sx: hemoyltic anemia, hypercoaguable state, low blood counts, high urine hemosiderin
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Set 02 Q: This macromolecular complex is responsible for degrading proteins tagged for destruction by the addition of multiple ubiquitin molecules
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Proteosome - the newly developed bortezomib inhibits this complex and is used for the treatment of multiple myeloma
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Set 02 Q: This type of enzyme inhibitor binds to the active site of the enzyme increasing the apparent Km without changing the Vmax
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Competitive inhibitor - physostigmine is a competitive inhibitor of acetylcholinesterase. Used to potentiate the activity of Ach in the treatment of glaucoma and is also used to treat Myasthenia Gravis
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Set 02 Q: This type of enzyme inhibitor does not bind to the active site of the enzyme and therefore does not change the Km of the reaction, however, it does decrease the Vmax
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Non competitive inhibitor - EDTA is a commonly used non-competitive inhibitor during the collection of blood samples from patients. It chelates the calcium required for the activation of serum proteases and proteins of the coagulation pathway
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