MT-TL1 is a small 75 nucleotide RNA (human mitochondrial map position 3230–3304) that transfers the amino acid leucine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.

Transfer RNAs help assemble protein building blocks (amino acids) into functioning proteins. The MT-TL1 gene provides instructions for making a specific form of tRNA that is designated as tRNA Leu (UUR).

Mar 30, 2025 · MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TL1 include Myoclonic Epilepsy Associated With Ragged-Red Fibers and Leigh Syndrome, Mitochondrial. Among its related pathways is Nephrotic syndrome.

The m.3243A >G mutation in the tRNA Leu (UUR) gene (MT-TL1) of the mitochondrial DNA is the most widely seen pathogenic mtDNA mutation which has major phenotypic variations. The clinical phenotype involves various organs such as the brain and ...

MT-TL1 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis.

By molecular surgery of wildtype MTTL1 purified from human placenta, Kirino et al. (2004) created MTTL1 in which the taurinomethyluridine was replaced by unmodified uridine in order to examine the wobble modification deficiency independent of …

The MT-TL1 gene encodes mitochondrial tRNA leucine 1 (UUA/G), which adds the amino acid leucine to the growing polypeptide chain of mtDNA-encoded subunits during translation. From: Handbook of Clinical Neurology, 2023

Jan 4, 2025 · Clinical resource with information about MT-TL1, MELAS syndrome, MERRF syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

The m.3243A>G variant of the MT-TL1 gene has been linked to cytochrome c oxidase deficiency, a condition characterized by the presence of ragged red fibers and skeletal muscle atrophy. 3 This variant notably has been associated with various mitochondrial syndromes.

The MT-TL1 gene plays a crucial role in mitochondrial functionality; it encodes mitochondrial tRNA for leucine, which is essential for proper translation of mitochondrial proteins involved in oxidative phosphorylation (OXPHOS).