leucyl-tRNA synthetase 2, mitochondrial
The LARS2 gene provides instructions for making an enzyme called mitochondrial leucyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), some proteins are synthesized in the mitochondria.
During protein synthesis, in either the mitochondria or the cytoplasm, a type of RNA called transfer RNA (tRNA) helps assemble protein building blocks (amino acids) into a chain that forms the protein. Each tRNA carries a specific amino acid to the growing chain. Enzymes called aminoacyl-tRNA synthetases, including mitochondrial leucyl-tRNA synthetase, attach a particular amino acid to a specific tRNA. Mitochondrial leucyl-tRNA synthetase attaches the amino acid leucine to the correct tRNA, which helps ensure that leucine is added at the proper place in the mitochondrial protein.
At least three mutations in the LARS2 gene have been found in individuals with Perrault syndrome, a condition characterized by hearing loss in affected males and females and abnormalities of the ovaries in affected females. The LARS2 gene mutations involved in Perrault syndrome reduce or eliminate the activity of mitochondrial leucyl-tRNA synthetase. A shortage of functional mitochondrial leucyl-tRNA synthetase prevents the normal assembly of new proteins within mitochondria. Researchers speculate that impaired protein assembly disrupts mitochondrial energy production. However, it is unclear exactly how LARS2 gene mutations lead to hearing problems and ovarian abnormalities in affected individuals.
- leucine translase
- leucine tRNA ligase 2, mitochondrial
- leucyl-tRNA synthetase 2
- probable leucine--tRNA ligase, mitochondrial
- probable leucyl-tRNA synthetase, mitochondrial