Mitochondrially encoded tRNA phenylalanine also known as MT-TF is a transfer RNA which in humans is encoded by the mitochondrial MT-TF gene.[1]
| mitochondrially encoded tRNA phenylalanine | |
|---|---|
| Identifiers | |
| Symbol | MT-TF |
| Alt. symbols | MTTF |
| NCBI gene | 4558 |
| HGNC | 7481 |
| RefSeq | NC_001807 |
| Other data | |
| Locus | Chr. MT [1] |
Structure
editThe MT-TF gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 71 base pairs.[2] The structure of a tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.[3]
Function
editMT-TF is a small transfer RNA (human mitochondrial map position 577-647) that transfers the amino acid phenylalanine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
editMutations in MT-TF can result in mitochondrial deficiencies and associated disorders, including Myoclonic epilepsy with ragged-red fibers (MERRF), Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Juvenile myopathy, encephalopathy, lactic acidosis, and stroke.[4]
Myoclonic epilepsy with ragged-red fibers (MERRF)
editMutations in the MT-TF 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:[4]
A 611G-A transition in MT-TF was found in a patient with MERRF.[5]
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
editMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).[6]
A patient with a mutation in the 583G-A position of the MT-TF gene exhibited symptoms of acute episodes of headaches, photophobia, vomiting, and a fully recovered left arm focal motor fitting.[7]
Complex IV Deficiency
editMT-TF mutations have been associated with complex IV deficiency of the mitochondrial respiratory chain, also known as the cytochrome c oxidase deficiency. Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, including skeletal muscles, the heart, the brain, or the liver. Common clinical manifestations include myopathy, hypotonia, and encephalomyopathy, lactic acidosis, and hypertrophic cardiomyopathy.[8] 622G>A mutations have been associated with the deficiency.[9]
References
edit- ^ Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome". Nature. 290 (5806): 457–65. Bibcode:1981Natur.290..457A. doi:10.1038/290457a0. PMID 7219534. S2CID 4355527.
- ^ "MT-TF mitochondrially encoded tRNA phenylalanine [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
- ^ "transfer RNA / tRNA". Scitable. Nature Education.
- ^ a b "MT-TF gene". Genetics Home Reference. U.S. National Library of Medicine.
- ^ Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G (June 2004). "A novel mitochondrial tRNAPhe mutation causes MERRF syndrome". Neurology. 62 (11): 2119–21. doi:10.1212/01.wnl.0000127608.48406.f1. PMID 15184630. S2CID 12423569.
- ^ "Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes". Genetics Home Reference. U.S. National Library of Medicine.
- ^ Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D, Lippe BM (July 1975). "Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia". Neurology. 25 (7): 614–21. doi:10.1212/wnl.25.7.614. PMID 1171391. S2CID 39471179.
- ^ "Cytochrome c oxidase deficiency". Genetics Home Reference.
This article incorporates text from this source, which is in the public domain.
- ^ Deschauer M, Swalwell H, Strauss M, Zierz S, Taylor RW (June 2006). "Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease". Archives of Neurology. 63 (6): 902–5. doi:10.1001/archneur.63.6.902. PMID 16769874.
Further reading
edit- Chinnery PF, Johnson MA, Taylor RW, Lightowlers RN, Turnbull DM (March 1997). "A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis". Annals of Neurology. 41 (3): 408–10. doi:10.1002/ana.410410319. PMID 9066365. S2CID 31987049.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.