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Gene Information

Gene symbol: MT-TK

Gene name: mitochondrially encoded tRNA lysine

HGNC ID: 7489

Related Genes

#	Gene Symbol	Number of hits
1	KSS	1 hits
2	LHON	1 hits
3	MELAS	1 hits
4	MT-TD	1 hits
5	MT-TH	1 hits
6	MT-TI	1 hits
7	MT-TL2	1 hits
8	MT-TN	1 hits
9	MT-TP	1 hits
10	MT-TS1	1 hits
11	MT-TW	1 hits
12	NPTX2	1 hits
13	WFS1	1 hits

Related Sentences

#	PMID	Sentence
1	7952850	Among hereditary defects of nuclear-encoded mitochondrial enzymes, carnitine palmitoyltransferase II (CPT-II) deficiency and pyruvate dehydrogenase complex (PDHC) deficiency are of major interest to the neurologist.
2	7952850	MELAS, MERRF, NARP, MIMyCa, etc.), 'pure' encephalopathies (e.g.
3	8063037	No diabetic subject was shown to have the mtDNA mutation at position 8344 (tRNA(lys)) which has previously been described in the syndrome of mitochondrial encephalomyopathy and red-ragged fibres (MERRF).
4	8803815	The mutation may not be specific to Caucasians, and is probably closely related to the MERRF/MELAS overlap syndrome.
5	9027481	Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.
6	9027481	Because Wolfram (or DIDMOAD) syndrome is supposed to be a mitochondrial (mt)-mediated disease, we investigated a group of eight DIDMOAD patients with respect to point mutations of the mtDNA thus far described as being associated with defined mitochondrial disorders such as MELAS, MERRF, and LHON.
7	9027481	We compared mtDNA variants identified in DIDMOAD patients with those found in LHON patients as well as in a control group consisting of 67 healthy German blood donors.
8	9027481	We found that a cluster of nucleotide exchanges at nucleotide positions (nps) 4216 and 11,251 roughly discriminates controls (12/67 controls, 18%) from the disease groups (6/8 DIDMOAD patients, 75%; 10/17 LHON patients, 59%).
9	9027481	All 4216-positive LHON patients (10 patients) were concentrated in a haplogroup defined by additional exchanges at nps 10,398, 12,612, and 13,708 (haplogroup A), while the bulk of 4216-positive DIDMOAD patients (5 patients) were found in a distinct haplogroup consisting of nucleotide exchanges at nps 4917, 10,463, 13,368, 14,233, and 15,928.
10	9810585	The first group includes mitochondrial disorders due to specific mutations of mitochondrial DNA such as the MELAS, MERRF or NARP encephalomyopathies, various conditions involving deafness (non-syndromic or associated with diabetes), Leber's optic neuropathy and a small group of cases of maternally transmitted Leigh's syndrome.
11	15351082	The patients were clinically classified as MELAS, MERRF, Leigh syndrome, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia and uncertain.
12	17489842	Many mutations in mtDNA can lead to multisystem disorders, such as Kearns-Sayre syndrome, NARP, MELAS, or MERRF syndromes, the presentation of which may include hearing loss.
13	17489842	In addition, several rare mutations in the mitochondrial MTTS1 and MTRNR1 genes have been found to be responsible for non-syndromic hearing loss.
14	21913424	The most common are point mutations in genes encoding mitochondrial tRNAs such as 3243A-->G and 8344T-->G that cause, respectively, MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) or MIDD (maternally-inherited diabetes and deafness) and MERRF (myoclonic epilepsy with ragged red fibres) syndromes.
15	23549648	Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS.
16	23696415	Each of the variants identified (m.4289T>C, MT-TI; m.5541C>T, MT-TW; m.5690A>G, MT-TN; m.7451A>T, MT-TS1; m.7554G>A, MT-TD; m.8304G>A, MT-TK; m.12206C>T, MT-TH; m.12317T>C, MT-TL2; m.16023G>A, MT-TP) was present in a different tRNA, with evidence in support of pathogenicity, and where possible, details of mutation transmission documented.