TARSL2
TARS2 Gene: Unraveling the Enigma of Mitochondrial Translation and Associated Diseases
Description
The TARS2 gene, located on chromosome 22, encodes a protein called mitochondrial aspartyl-tRNA synthetase 2 (DARS2). DARS2 is an essential enzyme involved in protein synthesis within mitochondria, the powerhouses of cells. It specifically catalyzes the attachment of aspartic acid to its cognate transfer RNA (tRNA) molecule, a critical step in the translation of mitochondrial DNA (mtDNA) into functional proteins.
Associated Diseases
Mutations in the TARS2 gene have been linked to several human diseases, primarily affecting the nervous system and metabolism. These include:
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): Characterized by seizures, recurrent strokes, muscle weakness, and lactic acidosis.
- Leigh syndrome: A neurodegenerative disorder in infants and children, causing severe psychomotor regression, seizures, and optic atrophy.
- Hypertrophic cardiomyopathy: A condition characterized by abnormally thickened heart muscle.
- Diabetes mellitus: A metabolic disorder characterized by high blood sugar levels.
Did you Know ?
Approximately 1 in 15,000 individuals worldwide carry a mutation in the TARS2 gene, making it one of the most common causes of mitochondrial disorders.
