MT-TL1

MT-TL1 is a gene that in humans is responsible for encoding the mitochondrial tRNA for leucine. This gene is located within the mitochondrial DNA, specifically in the mitochondrial genome. Mutations in this gene have been associated with various diseases, including mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and Leber's hereditary optic neuropathy (LHON).

Structure[edit | edit source]

The MT-TL1 gene is located on the mitochondrial genome at position 3230-3304. It is a small gene, consisting of only 75 base pairs. The structure of the MT-TL1 gene is unique in that it lacks introns, a characteristic feature of mitochondrial genes.

Function[edit | edit source]

The MT-TL1 gene encodes the mitochondrial tRNA for leucine. tRNA is a type of RNA molecule that helps decode a messenger RNA (mRNA) sequence into a protein. In this case, the MT-TL1 gene helps in the synthesis of proteins that are essential for the normal functioning of the mitochondria.

Clinical significance[edit | edit source]

Mutations in the MT-TL1 gene have been associated with several mitochondrial diseases. These include:

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): This is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy).

Myoclonic epilepsy with ragged-red fibers (MERRF): This is a disorder that affects many parts of the body, particularly the muscles and nervous system.