MT-TK is a small 70 nucleotide RNA (human mitochondrial map position 8295-8364) that transfers the amino acid lysine to a growing polypeptide chain at the ribosome site of protein synthesis during translation. Mutations in MT-TK can result in multiple mitochondrial deficiencies and associated disorders.

The MT-TK gene provides instructions for a specific form of tRNA that is designated as tRNA Lys. During protein assembly, this molecule attaches to a particular amino acid, lysine (Lys), and inserts it into the appropriate locations in the growing protein.

2024年12月25日 · MT-TK (Mitochondrially Encoded TRNA-Lys (AAA/G)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TK include Myoclonic Epilepsy Associated With Ragged-Red Fibers and Parkinson Disease, Mitochondrial .

2024年12月10日 · Title: Human tRNA (Lys3) (UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism. This is the first reported case of a double-point mutation in mtDNA, tRNA (Lys) and tRNA (Leu) genes, both of which were heteroplasmic and pathogenic for MERRF/MELAS overlap syndrome.

Approximately 15% wildtype mtDNAs restored translation and COX activity to near-normal levels. The results showed that the A-to-G substitution is functionally a recessive mutation that can be rescued by intraorganellar complementation.

2023年10月10日 · Clinical resource with information about MT-TK, MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

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.

2021年11月3日 · In summary, this variant meets criteria to be classified as pathogenic for primary mitochondrial disease inherited in a mitochondrial manner. This classification was approved by the NICHD U24 ClinGen Mitochondrial Disease Variant Curation Expert Panel …

目的 总结携带mt-tk基因m.8344a>g变异患儿的临床特征。 方法 病例系列研究，回顾性收集2012年1月至2024年1月于首都医科大学附属北京儿童医院神经内科就诊的22例MT-TK基因m.8344A>G变异临床诊断线粒体病患儿的病例资料，对患儿临床表现、实验室检查、肌肉病理、基因 ...

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