mitochondrially encoded tRNA histidine
Zuletzt aktualisiert 14. Apr 2023
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Der MT-TH gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble protein building blocks known as amino acids into full-length, functioning proteins. The MT-TH gene provides instructions for a specific form of tRNA that is designated as tRNAHis. During protein assembly, this molecule attaches to a particular amino acid, histidine (His), and inserts it into the appropriate locations in the growing protein.
Normal function
Der MT-TH gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble protein building blocks known as amino acids into full-length, functioning proteins. The MT-TH gene provides instructions for a specific form of tRNA that is designated as tRNAHis. During protein assembly, this molecule attaches to a particular amino acid, histidine (His), and inserts it into the appropriate locations in the growing protein.
The tRNAHis molecule is present in cellular structures called mitochondria. These structures convert energy from food into a form that cells can use. Through a process called oxidative phosphorylation, mitochondria use oxygen, simple sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNAHis molecule is involved in the assembly of proteins that carry out oxidative phosphorylation.
Conditions referring to this gene or chromosome
Other names
MTTH
tRNA histidine
Weiterführende Lektüre und Referenzen
- mitochondrially encoded tRNA histidine; MedlinePlus, National Library of Medicine.
- Blakely EL, Yarham JW, Alston CL, Craig K, Poulton J, Brierley C, Park SM, Dean A, Xuereb JH, Anderson KN, Compston A, Allen C, Sharif S, Enevoldson P, Wilson M, Hammans SR, Turnbull DM, McFarland R, Taylor RW. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat. 2013 Sep;34(9):1260-8. doi: 10.1002/humu.22358.
- Calvaruso MA, Willemsen MA, Rodenburg RJ, van den Brand M, Smeitink JA, Nijtmans L. New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS). Mitochondrion. 2011 Sep;11(5):778-82. doi: 10.1016/j.mito.2011.06.004. Epub 2011 Jun 17.
- Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schols L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T; European Federation of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec;16(12):1255-64. doi: 10.1111/j.1468-1331.2009.02811.x.
- Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Arch Neurol. 2004 Feb;61(2):269-72. doi: 10.1001/archneur.61.2.269.
- Mimaki M, Ikota A, Sato A, Komaki H, Akanuma J, Nonaka I, Goto Y. A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. J Hum Genet. 2003;48(1):47-50. doi: 10.1007/s100380300005.
- Shin WS, Tanaka M, Suzuki J, Hemmi C, Toyo-oka T. A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy. Am J Hum Genet. 2000 Dec;67(6):1617-20. doi: 10.1086/316896. Epub 2000 Oct 18.
- Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. Neurology. 2004 Apr 27;62(8):1420-3. doi: 10.1212/01.wnl.0000120667.77372.46.
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14. Apr 2023 | Neueste Version
1 May 2014 | Ursprünglich veröffentlicht
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