Mitochondrially encoded tRNA histidine, also known as MT-TH, is a transfer RNA which, in humans, is encoded by the mitochondrial MT-TH gene. [1]

The MT-TH gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble protein building blocks known as amino acids into full-length, functioning proteins.

Mar 30, 2025 · MT-TH (Mitochondrially Encoded TRNA-His (CAU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TH include Rare Mitochondrial Non-Syndromic Sensorineural Deafness and Mitochondrial Disease With Hypertrophic Cardiomyopathy.

Four MT-TK pathogenic variants account for approximately 90% of cases. In less than 5% of cases, mutations in other mitochondrial tRNA encoding genes (MT-TF, MT-TH, MT-T1, MT-TL1, MT-TP, MT-TS1, MT-TS2) have been documented.

Oct 22, 2004 · Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity …

Oct 26, 2011 · Endomyocardial biopsy demonstrated marked loss or disruption of sarcomeres and massive accumulation of mitochondria of various sizes. In the tRNA of both brothers, a G-to-A transition was found at position 12192 in the MTTH gene. The mutation was located 2 bp from the 3-prime end of the T-psi-C loop of the tRNA.

Aug 14, 2013 · Mutations in the mitochondrial genome, and in particular the mt-tRNAs, are an important cause of human disease. Accurate classification of the pathogenicity of novel variants is vital to allow accurate genetic counseling for patients and their families.

Oct 10, 2023 · Clinical resource with information about MT-TH, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Feb 27, 2001 · Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy).

Aug 25, 2023 · The MT-TH gene is a gene that encodes for the transfer RNA for the mitochondrial mRNAs. It is responsible for the synthesis of certain proteins that are essential for the functioning of the mitochondria. Mutations in the MT-TH gene can cause a variety of disorders and diseases.