25 Jun Pyruvate dehydrogenase complex (PDHC) deficiency
Question
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 terms
Case 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 4Electron 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.
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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 pumping with ATP production. How will cell respiration be affected? What symptoms will be observed? This drug was used in the 1930s as a weight-loss drug, but was banned in 1938 because of incidences of death. Why would weight loss occur? Why did some patients die?
For more information, perform an Internet search using “uncouplers” as the search term.
Case 6 Oligomycin
This drug is a direct inhibitor of ATP synthase in the electron transport system. How will cell respiration be affected? What symptoms will be observed? For more information, perform an Internet search using “oligomycin” as the search term.
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