When Pаtrick wаs 16 yeаrs оld, his hand started twitching as he picked up a glass at dinner. Five mоnths later (in February 2001), he fell dоwn the steps at his home and was unable to climb the steps to the bus. He went to the ER for his progressive weakness. At Children’s Hospital of Philadelphia he was initially diagnosed with a demyelinating disease. He was treated with anti-inflammatory drugs and antibodies for 2 years with no improvement. Patrick suffered from a genetic disease that altered the structure of one protein. The protein was an enzyme. The enzyme could potentially: - lose its ability to catalyze a reaction. - lose its ability to be regulated. Which statement about enzymes is correct? [color1] Consider the following metabolic pathways:Pyruvate ---> Acetyl CoA ---> Krebs cycle ORPyruvate ---> Lactate (Lactic acid) If Patrick’s enzyme responsible for converting pyruvate to acetyl CoA was inhibited, what would happen? [color9] Patrick suffered from lactate acidosis. Acidosis led to hyperventilation, muscle pain and weakness, and abdominal pain and nausea. He inherited a mutation leading to a disease called pyruvate dehydrogenase complex disease (PDCD). Pyruvate dehydrogenase is an enzyme that converts pyruvate to acetyl CoA inside the mitochondria. The brain depends on glucose as a fuel. PDCD degenerates gray matter in the brain. Pyruvate accumulates, leading to alanine and lactate accumulation in the blood (lactate acidosis). The lack of pyruvate dehydrogenase also resulted in a loss of energy production which in turn prevents the creation of ion gradients across membranes, muscle shortening and protein synthesis. Why did Patrick become paralyzed? [color8] What process is impaired if Acetyl-Co-A cannot be generated? [color4] A ketogenic diet may be used to treat this enzyme deficiency. Which food(s) can be metabolized to directly generate acetyl CoA? [color3] The loss of which of the following molecules was the most critical for Patrick’s paralysis? [color6] Resolution Although his family tried to care for him at home, Patrick remained in hospitals and nursing homes until he died in 2006. Patrick died due to pneumonia, sepsis, and renal failure when he was only 21 years old. His family mourns his loss but feels grateful that he was able to survive for 5 years on a respirator, 4 years beyond his doctor’s predictions. Source: National Center for Case Study Teaching in Science, University at Buffalo, State University of New York
Hоw wоuld yоu sаy eаch sentence in Jаpanese? Choose the best answer.
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