Sandbox 212: Difference between revisions
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Mutation and dysregulation of CPTs are linked to serious human diseases. Recessive mutations of CPT-I and CPT-IICPT-I and CPT-II are crucial for the beta-oxidation of long-chain fatty acids in the mitochondria by enabling their transport across the mitochondrial membrane. can produce hypoketonemia and hypoglycemia in patients, while CPT-II deficiency is the most common cause of abnormal lipid metabolism in skeletal muscle.Single-point mutations as well as insertions/deletions in the CPT genes can produce the clinical phenotype. The hypoglycemia observed in patients with reduced CPT-I activity suggests that antagonists of CPT-Is may be able to lower blood glucose levels. A covalent CPT-I inhibitor, etomoxir, can lower blood glucose levels in diabetic animals and humans, showing that such inhibitors may be efficacious for the treatment of type 2 diabetes. | Mutation and dysregulation of CPTs are linked to serious human diseases. Recessive mutations of CPT-I and CPT-IICPT-I and CPT-II are crucial for the beta-oxidation of long-chain fatty acids in the mitochondria by enabling their transport across the mitochondrial membrane. can produce hypoketonemia and hypoglycemia in patients, while CPT-II deficiency is the most common cause of abnormal lipid metabolism in skeletal muscle.Single-point mutations as well as insertions/deletions in the CPT genes can produce the clinical phenotype. The hypoglycemia observed in patients with reduced CPT-I activity suggests that antagonists of CPT-Is may be able to lower blood glucose levels. A covalent CPT-I inhibitor, etomoxir, can lower blood glucose levels in diabetic animals and humans, showing that such inhibitors may be efficacious for the treatment of type 2 diabetes. | ||
== References == | == References == | ||
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