MT-TL2
| mitochondrially encoded tRNA leucine 2 (CUN) | |
|---|---|
| Identifiers | |
| Symbol | MT-TL2 |
| Alt. symbols | MTTL2 |
| NCBI gene | 4568 |
| HGNC | 7491 |
| RefSeq | NC_001807 |
| Other data | |
| Locus | Chr. MT[1] |
Mitochondrially encoded tRNA leucine 2 (CUN)also known asMT-TL2is atransfer RNAwhich in humans is encoded by themitochondrialMT-TL2gene.[1]
Function
[edit]MT-TL2 is a small 71 nucleotideRNA(human mitochondrial map position 12266-12336) that transfers the amino acidleucineto a growingpolypeptidechain at theribosomesite ofproteinsynthesis duringtranslation.
Structure
[edit]TheMT-TL2gene is located on thep armof themitochondrial DNAat position 12 and it spans 75 base pairs.[2]The structure of atRNAmolecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafedclover.[3]
Clinical significance
[edit]Mutations inMT-TL2can result in multiple mitochondrial deficiencies and associated disorders, includingcardiopathy,myopathy,andencephalomyopathy.A patient with a mutation G12315A was found with encephalomyopathy with ragged-red muscle fibers.[4]A patient with a mutation of A12320G exhibited mitochondrial myopathy, and showed signs of mitochondrialmyopathy.[5]In addition, multiple individuals with a T12297C substitution showed signs ofcardiomyopathyaccompanied with varying degrees.[6]
MT-TL2mutations have also been associated with complex IV deficiency of themitochondrial respiratory chain,also known as thecytochrome c oxidasedeficiency. Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, includingskeletal muscles,theheart,thebrain,or theliver.Common clinical manifestations includemyopathy,hypotonia,andencephalomyopathy,lactic acidosis,andhypertrophic cardiomyopathy.[7]A patient with a 12316G>A mutation inMT-TL2was found with the deficiency.[8]
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.PMID7219534.S2CID4355527.
- ^"MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) [Homo sapiens (human)] - Gene - NCBI".www.ncbi.nlm.nih.gov.
- ^"tRNA / transfer RNA".Learn Science at Scitable.
- ^Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA (November 1996)."A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy".Human Molecular Genetics.5(11): 1835–40.doi:10.1093/hmg/5.11.1835.PMID8923013.
- ^Weber K, Wilson JN, Taylor L, Brierley E, Johnson MA, Turnbull DM, Bindoff LA (February 1997)."A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle".American Journal of Human Genetics.60(2): 373–80.PMC1712391.PMID9012410.
- ^Grasso M, Diegoli M, Brega A, Campana C, Tavazzi L, Arbustini E (April 2001)."The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy".European Journal of Human Genetics.9(4): 311–5.doi:10.1038/sj.ejhg.5200622.PMID11313776.
- ^"Cytochrome c oxidase deficiency".Genetics Home Reference.
This article incorporates text from this source, which is in thepublic domain.
- ^Ronchi D, Virgilio R, Bordoni A, Fassone E, Sciacco M, Ciscato P, Moggio M, Govoni A, Corti S, Bresolin N, Comi GP (May 2010). "The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment".Journal of the Neurological Sciences.292(1–2): 107–10.doi:10.1016/j.jns.2010.01.026.PMID20163808.S2CID10403077.
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.