AARS2

AARS2: An Essential Player in Brain Development and Health

Description:

AARS2, also known as mitochondrial alanyl-tRNA synthetase 2, is a crucial enzyme involved in protein synthesis within mitochondria, the energy powerhouses of our cells. Specifically, AARS2 is responsible for attaching the amino acid alanine to its corresponding tRNA molecule, enabling the synthesis of essential proteins.

Associated Diseases:

Mutations in the AARS2 gene have been linked to various neurological disorders, including:

• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A progressive disorder characterized by seizures, strokes, muscle weakness, and lactic acidosis.
• Leigh Syndrome: A severe mitochondrial disease that affects infants, causing developmental delays, seizures, and progressive neurological deterioration.
• Ataxia with Mitochondrial Encephalopathy: A condition characterized by progressive neurological symptoms, including ataxia (difficulty with coordination), muscle weakness, and respiratory problems.
• Optic Atrophy and Ataxia: A rare disease that primarily affects the optic nerves, leading to vision loss, and the central nervous system, causing ataxia and other neurological issues.

Did you Know ?

Approximately 1 in 20,000 people worldwide are estimated to have a mutation in the AARS2 gene that is associated with mitochondrial diseases.