YARS
The YARS Gene: A Key Player in Mitochondrial Function and Human Health
Description:
The YARS gene, also known as the tyrosyl-tRNA synthetase gene, plays a vital role in protein synthesis within the mitochondria. It encodes an enzyme that attaches tyrosine, one of the 20 essential amino acids, to its corresponding transfer RNA (tRNA). This process is crucial for the proper synthesis of proteins that are responsible for energy production and other vital cellular functions.
Associated Diseases:
Mutations in the YARS gene have been linked to a number of rare but debilitating diseases. These diseases primarily affect the mitochondria and can cause severe developmental disorders, neurological impairments, and muscle weakness.
- Myopathic mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): This condition is caused by mutations in the mitochondrial tRNA genes, including YARS. It is characterized by strokes, seizures, migraines, muscle weakness, and developmental delays.
- Kearns-Sayre syndrome (KSS): Another mitochondrial disease linked to YARS mutations, KSS causes muscle weakness, vision problems, hearing loss, and other neurological symptoms.
- Mitochondrial neurogastrointestinal encephalopathy (MNGIE): This rare and fatal disease is caused by mutations in the nuclear-encoded genes, including YARS. MNGIE affects multiple organs, including the nervous system, gastrointestinal tract, and muscles, leading to severe gastrointestinal issues, neurological impairments, and progressive weakness.
Did you Know ?
Mutations in the YARS gene are estimated to affect approximately 1 in 100,000 people worldwide. However, the incidence may be underestimated due to the difficulty in diagnosing mitochondrial diseases.
