MT-TT
| MT-TT | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MT-TT,TRNT, RF00005 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM:590090;MGI:102473;GeneCards:MT-TT;OMA:MT-TT - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Mitochondrially encoded tRNA threoninealso known asMT-TTis atransfer RNAwhich in humans is encoded by themitochondrialMT-TTgene.[3]
Structure
[edit]TheMT-TTgene is located on thep armof the non-nuclearmitochondrial DNAat position 12 and it spans 66 base pairs.[4]The structure of atRNAmolecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafedclover.[5]
Function
[edit]MT-TT is a small 66 nucleotideRNA(human mitochondrial map position 15888-15953) that transfers the amino acidthreonineto a growingpolypeptidechain at theribosomesite ofproteinsynthesis duringtranslation.
Clinical significance
[edit]Myoclonic epilepsy with ragged-red fibers (MERRF)
[edit]Mutations inMT-TThave been associated withmyoclonic epilepsy with ragged-red fibers (MERRF),and cause mitochondrial energy deficiencies and reduced proliferation leading tooxidative phosphorylation.Myoclonic epilepsy with ragged-red fibers (MERRF)is a raremitochondrial disorderthat affects many parts of the body, particularly themusclesandnervous system.In most cases, the signs and symptoms of this disorder appear duringchildhoodoradolescence.The features of MERRF vary widely among affected individuals, even among members of the same family. Common clinical manifestations includemyoclonus,myopathy,spasticity,epilepsy,peripheral neuropathy,dementia,ataxia,atrophyand more.[6][7]In addition, mutations have also been linked to lethal infantilemitochondrial myopathy,Parkinson's diseaseassociated with a 15950G>A mutation,[8]and a 15923A>G mutation found to result in an unconfirmed heart disease.[9][10]
Cytochrome c oxidase deficiency
[edit]MT-TTmutations result in 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.[11]A 15915G>A mutation was found in a patient with cytochrome c oxidase deficiency with accompany symptoms ofseizures,progressivehearing lossandmuscle weakness.[12]
References
[edit]- ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^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-TT mitochondrially encoded tRNA threonine [Homo sapiens (human)] - Gene - NCBI".ncbi.nlm.nih.gov.
- ^"tRNA / transfer RNA".Learn Science at Scitable.
- ^ "Myoclonic epilepsy with ragged-red fibers".Genetics Home Reference.U.S. National Library of Medicine.
- ^Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC (July 1997). "A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator".Nature Genetics.16(3): 226–34.doi:10.1038/ng0797-226.PMID9207786.S2CID7285265.
- ^Grasbon-Frodl EM, Kösel S, Sprinzl M, von Eitzen U, Mehraein P, Graeber MB (April 1999). "Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease".Neurogenetics.2(2): 121–7.doi:10.1007/s100480050063.PMID10369889.S2CID13031885.
- ^Yoon KL, Aprille JR, Ernst SG (May 1991). "Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency".Biochemical and Biophysical Research Communications.176(3): 1112–5.doi:10.1016/0006-291X(91)90399-R.PMID1645537.
- ^Reference, Genetics Home."MT-TT gene".Genetics Home Reference.
- ^Reference, Genetics Home."Cytochrome c oxidase deficiency".Genetics Home Reference.
This article incorporates text from this source, which is in thepublic domain.
- ^Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y (August 1996). "A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy".Biochemical and Biophysical Research Communications.225(1): 180–5.doi:10.1006/bbrc.1996.1150.PMID8769114.
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.