mitochondrially encoded tRNA lysine
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The MT-TK gene provides instructions for making a molecule called a transfer RNA (tRNA), which is a chemical cousin of DNA. Transfer RNAs help assemble protein building blocks (amino acids) into full-length, functioning proteins. The MT-TK gene provides instructions for a specific form of tRNA that is designated as tRNALys. During protein assembly, this molecule attaches to a particular amino acid, lysine (Lys), and inserts it into the appropriate locations in the growing protein.
Normal function
The MT-TK gene provides instructions for making a molecule called a transfer RNA (tRNA), which is a chemical cousin of DNA. Transfer RNAs help assemble protein building blocks (amino acids) into full-length, functioning proteins. The MT-TK gene provides instructions for a specific form of tRNA that is designated as tRNALys. During protein assembly, this molecule attaches to a particular amino acid, lysine (Lys), and inserts it into the appropriate locations in the growing protein.
The tRNALys molecule is present in cellular compartments 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 tRNALys molecule is involved in the assembly of proteins that carry out oxidative phosphorylation.
In certain cells in the pancreas, called beta cells, mitochondria also play a role in controlling the amount of sugar (glucose) in the bloodstream. In response to high glucose levels, mitochondria help trigger the release of a hormone called insulin. Insulin regulates blood glucose levels by controlling how much glucose is passed from the blood into cells to be converted into energy.
Conditions referring to this gene or chromosome
Otros nombres
mitochondrial tRNA-Lys
MTTK
trnK
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Lecturas adicionales y referencias
- mitochondrially encoded tRNA lysine; MedlinePlus, National Library of Medicine.
- Berkovic SF, Shoubridge EA, Andermann F, Andermann E, Carpenter S, Karpati G. Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet. 1991 Aug 17;338(8764):457. doi: 10.1016/0140-6736(91)91090-h. No abstract available.
- 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.
- Kameoka K, Isotani H, Tanaka K, Azukari K, Fujimura Y, Shiota Y, Sasaki E, Majima M, Furukawa K, Haginomori S, Kitaoka H, Ohsawa N. Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes. Biochem Biophys Res Commun. 1998 Apr 17;245(2):523-7. doi: 10.1006/bbrc.1998.8437.
- Kameoka K, Isotani H, Tanaka K, Kitaoka H, Ohsawa N. Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys). Diabetes Care. 1998 Nov;21(11):2034-5. doi: 10.2337/diacare.21.11.2034. No abstract available.
- Lorenzoni PJ, Scola RH, Kay CS, Arndt RC, Silvado CE, Werneck LC. MERRF: Clinical features, muscle biopsy and molecular genetics in Brazilian patients. Mitochondrion. 2011 May;11(3):528-32. doi: 10.1016/j.mito.2011.01.003. Epub 2011 Feb 15.
- Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311.
- Sano M, Ozawa M, Shiota S, Momose Y, Uchigata M, Goto Y. The T-C(8356) mitochondrial DNA mutation in a Japanese family. J Neurol. 1996 Jun;243(6):441-4. doi: 10.1007/BF00900496.
- Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am J Hum Genet. 1996 May;58(5):933-9.
- Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C. Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev. 1996 May-Jun;18(3):185-91. doi: 10.1016/0387-7604(95)00147-6.
- Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology. 1993 Jun;43(6):1200-6. doi: 10.1212/wnl.43.6.1200.
- Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet. 1993;1(1):80-7. doi: 10.1159/000472390.
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