TARS
The TARS Gene: An Essential Orchestrator of Mitochondrial Function
Description
The TARS gene encodes a protein called mitochondrial aspartate-tRNA synthetase (mAspRS). This protein is essential for the synthesis of mitochondrial proteins, which play a crucial role in cellular respiration, energy production, and various metabolic pathways. mAspRS catalyzes the attachment of the amino acid aspartate to its specific transfer RNA (tRNA) molecule, ensuring the proper incorporation of aspartate into the growing mitochondrial protein chain.
Associated Diseases
Mutations in the TARS gene can disrupt mAspRS function and lead to a range of rare genetic disorders:
- Mitochondrial Aspartate-tRNA Synthetase Deficiency (MTADS): A severe disorder characterized by encephalopathy (brain dysfunction), lactic acidosis (excessive buildup of lactic acid in the blood), and cardiomyopathy (heart muscle weakness).
- Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP): A progressive disorder causing muscle weakness, poor coordination (ataxia), and vision loss due to degeneration of the retina.
- Leigh Syndrome: A fatal neurodegenerative disorder in infants characterized by seizures, developmental delays, and muscle weakness.
Did you Know ?
Mutations in the TARS gene are estimated to affect approximately 1 in 50,000 individuals worldwide. This rare occurrence underscores the importance of understanding the gene's critical role in mitochondrial function.
