MTSS1L
MT-SS1L: A Mitochondrial Protein Linked to Neurological Disorders
Description
Mitochondrial tRNA synthetase like (MT-SS1L) is a protein that plays a crucial role in mitochondrial protein synthesis. It is located within the mitochondria, the energy-producing organelles of the cell. MT-SS1L is involved in the process of aminoacylation, where it attaches amino acids to tRNA molecules. These tRNA molecules then carry the amino acids to the ribosomes, where they are used to assemble proteins.
Associated Diseases
Mutations in the MT-SS1L gene have been linked to several neurological disorders, including:
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): A condition characterized by seizures, stroke-like episodes, muscle weakness, and lactic acidosis.
- Leigh syndrome: A severe neurological disorder that affects infants and young children, leading to developmental delays, muscle weakness, and seizures.
- Other mitochondrial disorders: MT-SS1L mutations have also been implicated in a range of other mitochondrial disorders, including cardiomyopathy, optic atrophy, and sensorineural hearing loss.
Did you Know ?
Approximately 1 in 50,000 people worldwide are affected by MELAS, the most common mitochondrial disorder associated with MT-SS1L mutations.
