MT-TH

MT-TH is a gene that in humans encodes the mitochondrial threonyl-tRNA synthetase, an enzyme that plays a crucial role in protein synthesis within the mitochondria. This gene is located on the long (q) arm of chromosome 5 at position 15.2.

Function

The enzyme encoded by the MT-TH gene belongs to the class-II aminoacyl-tRNA synthetase family. These enzymes attach specific amino acids to their corresponding tRNA molecules, which is a critical step in the process of protein synthesis. In particular, the MT-TH enzyme is responsible for the ligation of threonine to its corresponding tRNA molecule.

Clinical significance

Mutations in the MT-TH gene have been associated with several mitochondrial diseases, including mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and Leigh syndrome. These conditions are characterized by a wide range of symptoms, including muscle weakness, neurological problems, and lactic acidosis.

Research

Research into the MT-TH gene and its associated diseases is ongoing. Understanding the function of this gene and the consequences of its mutation could lead to new treatments for mitochondrial diseases.

See also

• Mitochondrial DNA
• Mitochondrial disease
• Protein synthesis
• Aminoacyl-tRNA synthetase