SLC25A17
The SLC25A17 Gene: Unraveling the Enigma of Mitochondrial Health
Description:
The SLC25A17 gene, located on chromosome 13q14.11, encodes a protein called mitochondrial carrier homolog 2 (MTCH2). MTCH2 is an essential component of the mitochondrial pyruvate carrier (MPC), a membrane-bound complex responsible for transporting pyruvate into mitochondria. Pyruvate is a key substrate for oxidative phosphorylation, the process by which cells generate energy.
Associated Diseases:
Mutations in the SLC25A17 gene can lead to several mitochondrial disorders, including:
- Leukoencephalopathy with brainstem and spinal cord involvement and lactic acidosis (LBSL): A debilitating neurological condition characterized by progressive brain and spinal cord damage and impaired energy metabolism.
- Leigh syndrome: A severe neurodegenerative disorder that affects infants and young children, leading to developmental delays, seizures, and ultimately death.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A multi-system disorder that can affect the brain, muscles, heart, and other organs, causing strokes, seizures, and metabolic abnormalities.
Did you Know ?
Mutations in the SLC25A17 gene are responsible for approximately 10% of cases of LBSL, 5% of cases of Leigh syndrome, and 2-3% of cases of MELAS.
