MT-TR
| mitochondrially encoded tRNA arginine | |
|---|---|
| Identifiers | |
| Symbol | MT-TR |
| Alt. symbols | MTTR |
| NCBI gene | 4573 |
| HGNC | 7496 |
| RefSeq | NC_001807 |
| Other data | |
| Locus | Chr. MT [1] |
Mitochondrially encoded tRNA arginine also known as MT-TR is a transfer RNA which in humans is encoded by the mitochondrial MT-TR gene.[1]
Structure
The MT-TR gene is located on the p arm of the non-nuclear mitochondrial DNA at position 12 and it spans 65 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
MT-TR is a small 65 nucleotide RNA (human mitochondrial map position 10405-10469) that transfers the amino acid arginine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
Mutations in MT-TR have been associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). MELAS is a rare mitochondrial disorder known to affect many parts of the body, especially the nervous system and the brain. Symptoms of MELAS include recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes with a loss of consciousness, seizures, and other problems affecting the nervous system.[4] Mutations in MT-TR associated with the disease have included 10450A-G[5] and 10438A-G.[6]
Cytochrome c oxidase deficiency
MT-TR 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.[7] A 10437 G>A mutation has been found with a patient with the deficiency.[8]
References
- ^ 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-TR mitochondrially encoded tRNA arginine [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
- ^ "tRNA / transfer RNA". Learn Science at Scitable.
- ^ Reference, Genetics Home. "MT-TH gene". Genetics Home Reference.
This article incorporates text from this source, which is in the public domain.
- ^ Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L (March 2010). "Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects". European Journal of Human Genetics. 18 (3): 324–9. doi:10.1038/ejhg.2009.169. PMC 2987211. PMID 19809478.
- ^ Uusimaa J, Finnilä S, Remes AM, Rantala H, Vainionpää L, Hassinen IE, Majamaa K (August 2004). "Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes". Pediatrics. 114 (2): 443–50. doi:10.1542/peds.114.2.443. PMID 15286228.
- ^ Reference, Genetics Home. "Cytochrome c oxidase deficiency". Genetics Home Reference. This article incorporates text from this source, which is in the public domain.
- ^ Roos S, Darin N, Kollberg G, Andersson Grönlund M, Tulinius M, Holme E, Moslemi AR, Oldfors A (May 2013). "A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy". European Journal of Human Genetics. 21 (5): 571–3. doi:10.1038/ejhg.2012.153. PMC 3641373. PMID 22781096.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.