CPT1C
Title: Carnitine Palmitoyltransferase 1C (CPT1C): Unlocking the Enigma of Mitochondrial Fatty Acid Metabolism
Description:
Carnitine palmitoyltransferase 1C (CPT1C) is a pivotal enzyme in mitochondrial fatty acid oxidation, a critical energy pathway for cells. This enzyme plays a central role in the transport of long-chain fatty acids into the mitochondria, where they are broken down to produce energy. Dysregulation of CPT1C activity is linked to various metabolic disorders.
Associated Diseases:
Dysfunctional CPT1C is associated with several inherited metabolic diseases, including:
- Carnitine palmitoyltransferase 1C deficiency (CPT1C deficiency): A rare genetic disorder characterized by impaired fatty acid oxidation, leading to energy deficiency, cardiomyopathy, and neurological symptoms.
- Barth syndrome: A rare X-linked disorder primarily affecting males. It is caused by mutations in the tafazzin gene, which encodes a protein involved in CPT1C assembly. Symptoms include cardiomyopathy, skeletal muscle weakness, and growth retardation.
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): A mitochondrial disorder caused by mutations in mitochondrial DNA. CPT1C deficiency is a common finding in MELAS patients.
Did you Know ?
About 1 in every 200,000 people is affected by CPT1C deficiency, making it a rare but significant metabolic disorder.
