FAM231A
FAM231A: An Essential Gene for Mitochondrial Function
Description
FAM231A (Family with sequence similarity 231, member A) is a gene essential for the proper functioning of mitochondria, the powerhouses of our cells. It encodes a protein that plays a vital role in mitochondrial dynamics, specifically in the formation and maintenance of mitochondrial cristae. Cristae are folded structures within mitochondria that increase surface area, providing more space for oxidative phosphorylation, the process by which cells generate energy.
Associated Diseases
Mutations in the FAM231A gene have been linked to a range of mitochondrial diseases, including:
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): A multisystem disorder characterized by seizures, stroke-like episodes, muscle weakness, and lactic acidosis.
- Leigh syndrome: A neurodegenerative disorder that affects infants and young children, causing delayed development, seizures, and muscle weakness.
- NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa): A progressive disorder affecting the nervous system and vision.
- Mitochondrial myopathy: A type of muscle disease characterized by muscle weakness and fatigue.
Did you Know ?
Approximately 1 in 40,000 people carry a pathogenic mutation in the FAM231A gene, making it one of the more common causes of mitochondrial disease.
