Case 1 Pyruvate dehydrogenase complex (PDHC) deficiency This is a fairly rare genetic disorder. The enzyme that converts pyruvate to acetyl CoA is deficient. How will cell respiration be affected? What symptoms will be observed? For more information, perform an Internet search using “pyruvate dehydrogenase complex (PDHC) deficiency” as the search terms. Case 2 Mitochondrial cytochrome b deficiency Cytochrome b is part of the electron transport chain in mitochondria. In this rare genetic disorder, only the mitochondria in the muscle are affected. Very early in their embryonic development, a mutation occurred in the cytochrome b gene in a cell destined to produce their muscles. How will cell respiration be affected? What symptoms will be observed? What will be observed during mild exercise? For more information, perform an Internet search using “mitochondrial cytochrome b deficiency” as the search termsCase 3 Thiamine deficiency Thiamine (vitamin B1) is an important cofactor in one of the reactions in the Krebs cycle, and also the reaction that converts pyruvate to acetyl CoA. It is normally found in the diet in yeast, pork, legumes, cereal grains, rice. It may become deficient during malnutrition or conditions that cause malnutrition such as alcoholism, HIV, and anorexia nervosa. How will cell respiration be affected? What symptoms will be observed? For more information, perform an Internet search using “thiamine deficiency” as the search terms. Case 4 Electron transport chain inhibitors such as rotenone, antimycin, cyanide These inhibitors block one of the steps in the electron transport system. How will cell respiration be affected? What symptoms will be observed? For more information, perform an Internet search using “rotenone, antimycin, and cyanide” as search terms. . Case 5 Uncouplers such as 2, 4 Dinitrophenol An uncoupler allows hydrogen ions to leak back across the membrane. It uncouples the process of proton...
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