ATP5L
ATP5L: A Crucial Mitochondrial Gene
Description:
ATP5L, also known as ATP synthase subunit Lc, is a gene that plays a critical role in cellular energy production. It encodes a protein that is part of the F1 complex of ATP synthase, an enzyme that synthesizes adenosine triphosphate (ATP), the primary energy currency of cells.
Associated Diseases:
Mutations in ATP5L have been linked to several mitochondrial disorders, including:
- Leigh syndrome: A severe neurological disorder characterized by delayed development, muscle weakness, and progressive neurodegeneration.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A multi-system disorder that affects the brain, muscles, and other organs, causing symptoms such as seizures, strokes, and muscle weakness.
- Kearns-Sayre syndrome: A rare disorder that typically affects children and causes progressive muscle weakness, visual impairment, and hearing loss.
Did you Know ?
Mitochondrial disorders affect an estimated 1 in 5,000 people worldwide, and ATP5L mutations are responsible for approximately 20% of cases.
