MT-TL2

MT-TL2 is a gene that in humans is located on mitochondrial DNA. It encodes the transfer RNA for leucine (tRNA^Leu(UUR)), which is essential for the synthesis of proteins within the mitochondrion. Mutations in this gene have been associated with various mitochondrial diseases, including mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS).

Structure

The MT-TL2 gene is located in the mitochondrial genome, specifically at base pairs 12207 to 12265. It is a small gene, consisting of only 59 base pairs. The gene is part of the heavy strand of mitochondrial DNA, which contains most of the genes involved in mitochondrial protein synthesis.

Function

The MT-TL2 gene encodes the tRNA^Leu(UUR), which is responsible for the incorporation of the amino acid leucine into growing polypeptide chains during protein synthesis. This process takes place within the mitochondrion, the cell's powerhouse, where energy is produced.

Clinical significance

Mutations in the MT-TL2 gene have been linked to several mitochondrial diseases. These include MELAS, a condition characterized by recurrent stroke-like episodes, muscle weakness, and a buildup of lactic acid in the body. Other conditions associated with MT-TL2 mutations include myoclonic epilepsy with ragged-red fibers (MERRF), Leber's hereditary optic neuropathy (LHON), and neuropathy, ataxia, and retinitis pigmentosa (NARP).

See also

• Mitochondrial DNA
• Mitochondrial disease
• Transfer RNA

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