Question

BCMB 3100 Pymuvate Mailings Review View Pyruvate increases Lactate increases Acetyl-CoA decreases ATP decreases 10. Patrick inherited a mutation in his PDH complex. Using trusted biomedical sources, research pyruvate dehydrogenase complex deficiency. a. In your own words, briefly discuss one possible mutation that Patrick could have. Cite your source(s). b. List some physiological consequences that would arise. Cite your source(s). c. In your own words, briefly discuss Patrick's treatment options. Cite your source(s). 30 888 0

Answer 1

Ans 1) One of the possible mutation that he must be suffering from is mutation in the PDHA1 gene. The gene is responsible for production of the E1 alpha protein and two copies of the proteins make the E1 beta proteins. Due to the defect in the same it is not able to breakdown the pyruvate into acetyl CoA and hence interferes with the production of ATP. Due to the inability to degrade pyruvates, its concentration increases

Ans 2)

• It leads to increased build up of the lactic acid in the body and fatigues the muscle. This cause the condition of uncontrolled lactic acidosis.
• It leads to formation of a number of neurodegerative disorders and impairs the process of mitochondrial metabolism. It causes a number of diseases like seizures, mental retardation, microencephaly etc.
• Causes a number of metabolic disturbances and increases the chance of bacterial infection

Ans3) Patrick needs to be treated so that it provides alternate fuel in the body for metabolism. It involves correction of acidosis problem and a ketogenic diet with low carbohydrates and high fat is suggested which helps in reducing lactic acidosis. The inclusion of dichloroacetate helps in inhibiting phosphorylation of pyruvate dehydrogenase complex and helps in activation of the residual complex function.