MT-TK

MT-TK is a gene that in humans is encoded by the MT-TK genetic sequence. This gene provides instructions for making a molecule known as transfer RNA (tRNA), which is essential for the assembly of amino acids into functioning proteins. The MT-TK gene is located within the mitochondrial DNA and is specifically involved in the production of a tRNA molecule that recognizes the codon for the amino acid threonine.

Function

The MT-TK gene's primary function is to produce a specific type of tRNA molecule. This tRNA molecule is responsible for adding the amino acid threonine to growing protein chains during the process of protein synthesis. The addition of threonine and other amino acids in the correct sequence ensures that the resulting proteins fold into the correct 3D shape and can perform their intended functions within the cell.

Clinical significance

Mutations in the MT-TK gene have been associated with several mitochondrial disorders, including Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Myoclonic Epilepsy with Ragged Red Fibers (MERRF). These conditions are characterized by a wide variety of symptoms, including muscle weakness, seizures, and problems with movement and balance.

See also

• Mitochondrial DNA
• Transfer RNA
• Protein synthesis
• Mitochondrial disease