2024年12月25日 · MT-TQ (Mitochondrially Encoded TRNA-Gln (CAA/G)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TQ include Myopathy and Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes .

MT-TQ is a small 72 nucleotide RNA (human mitochondrial map position 4329-4400) that transfers the amino acid glutamine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.

2024年12月10日 · Clinical resource with information about MT-TQ, MELAS syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2021年11月13日 · 目标：基于线粒体基因组的独有特性以及线粒体转运RNA（mt-tRNA）的保守结构和功能特点，本研究根据我们实验室三十多年的临床经验，建立了mt-tRNA基因变异解读的标准。

2024年5月10日 · The MT-TQ gene encodes the mitochondrial glutamine transfer RNA (tRNA Gln), which functions to recognize and bind to glutamine, and then transport it to the correct position...

2020年1月22日 · Proper interpretation of mt-tRNA variants is crucial for accurate clinical diagnosis and genetic counseling. Correlations with tissue distribution, heteroplasmy levels, predicted perturbations to...

2024年12月10日 · Data indicate that the 4329C> G point mutation in mitochondrial transfer RNA genes tRNA (Ile) and tRNA (Gln) probably contributed to the pathogenesis of hypertension, possibly in association with other modifying factors. Title: [Mitochondrial DNA mutation associated with hypertension in tRNA (Ile) and tRNA (Gln) genes].

2013年9月27日 · The mutational analysis of mtDNA genes revealed four variants. The m.4395A>G transition (C6G) in the MT-TQ gene, which altered an evolutionary conserved nucleotide, with a conservation index of 85.7 % and affected a highly conserved U.G base pair in the secondary structure of MT-TQ.

2001年6月1日 · Finnila et al. (2001) analyzed 1 group including 480 controls and 575 patients with diseases manifesting in middle life, including diabetes, epilepsy, sensorineural hearing loss, occipital stroke, and migraine, and a second group including 497 patients with Alzheimer disease, non-Alzheimer dementia, or Parkinson disease.

In this review, we deepen the knowledge in the current models for the most studied mt-tRNA mutation-caused mitochondrial diseases, MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MERRF (myoclonic epilepsy with ragged red fibers) syndromes, and their therapeutic management.