MT-TI [SEP] found in taxon
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.
Structure.
The "MT-TI" gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 69 base pairs. The structure of a tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.
Function.
MT-TI is a small 69 nucleotide
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. Mutations of 4300AG, 4295AG, 4269AG, and 4317AG in the "MT-TI" gene have been found in patients with cardiomyopathy in varying severities and onset.
Clinical significance Complex IV Deficiency.
"MT-TI" mutations have been associated with complex IV deficiency of the mitochondrial respiratory