MT-TI

Mitochondrially encoded tRNA isoleucine also known as MT-TI is a transfer RNA which in humans is encoded by the mitochondrial MT-TI gene.^[1]

Structure

The MT-TI gene is located on the

Mutations in the MT-TI gene have been associated with myoclonic epilepsy with ragged-red fibers (MERRF). Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. Common symptoms include, myoclonus, myopathy, spasticity, epilepsy, peripheral neuropathy, dementia, ataxia, atrophy, and more.^[4]

Cardiomyopathy

Mutations in the MT-TI gene may also cause cardiomyopathy, a disorder of the heart characterized by the thickening of the heart, usually in the interventricular septum, which results in a weakened heart muscle that is unable to pump blood effectively. It is unclear why such mutations result in the symptoms of isolated cardiomyopathy.^[5] Mutations of 4300A>G, 4295A>G, 4269A>G, and 4317A>G in the MT-TI gene have been found in patients with cardiomyopathy in varying severities and onset.^[6][7][8][9]

Complex IV Deficiency

MT-TI mutations have been associated with complex IV deficiency of the