LARS2 gene
The LARS2 gene provides instructions for a mitochondrial enzyme essential for protein synthesis, with mutations linked to Perrault syndrome.
Overview
The LARS2 gene provides instructions for making an enzyme called mitochondrial leucyl-tRNA synthetase. This enzyme is vital for protein synthesis within mitochondria, the energy-producing centers of the cell.
During protein synthesis, transfer RNA (tRNA) molecules carry specific amino acids to the site where proteins are assembled. Aminoacyl-tRNA synthetases, such as mitochondrial leucyl-tRNA synthetase, are responsible for attaching the correct amino acid to its corresponding tRNA. Specifically, this enzyme attaches the amino acid leucine to the correct tRNA, ensuring that leucine is placed accurately within mitochondrial proteins.
Health Conditions Related to Genetic Changes
Perrault syndrome
Mutations in the LARS2 gene have been identified in individuals with Perrault syndrome. This condition is characterized by:
- Hearing loss in both males and females
- Abnormalities of the ovaries in females
The mutations reduce or eliminate the activity of the mitochondrial leucyl-tRNA synthetase enzyme. This shortage disrupts the assembly of new proteins within the mitochondria, which researchers speculate impairs mitochondrial energy production. While the link between these mutations and the specific symptoms of hearing loss and ovarian abnormalities is established, the exact biological mechanism remains under investigation.
Genomic Location
The LARS2 gene is found on chromosome 3.