MT-TV (mitochondrial)
MT-TV is a gene that in humans is encoded by the MT-TV genetic sequence. This gene provides instructions for making a molecule called transfer RNA (tRNA), which is essential for the assembly of amino acids into functioning proteins. The MT-TV gene is located within mitochondrial DNA, and thus is involved in the production of proteins within the mitochondria, the energy-producing centers of cells.
Function[edit | edit source]
The MT-TV gene is responsible for the production of a specific type of tRNA, known as tRNA^Val. This molecule plays a crucial role in the process of protein synthesis, as it helps to incorporate the amino acid valine into the growing protein chain.
Clinical significance[edit | edit source]
Mutations in the MT-TV gene have been associated with a variety of mitochondrial diseases, including mitochondrial myopathy, Leber's hereditary optic neuropathy, and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These conditions are characterized by a wide range of symptoms, including muscle weakness, vision loss, and neurological problems, and are often associated with a reduced ability of the mitochondria to produce energy.
Research[edit | edit source]
Research into the MT-TV gene and its associated diseases is ongoing, with scientists seeking to better understand the mechanisms by which mutations in this gene lead to disease, and to develop potential treatments.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD