MT-TV (mitochondrial)
| mitochondrially encoded tRNA valine | |
|---|---|
| Identifiers | |
| Symbol | MT-TV |
| Alt. symbols | MTTV |
Chr. MT [1] | |
Mitochondrially encoded tRNA valine also known as MT-TV is a transfer RNA which in humans is encoded by the mitochondrial MT-TV gene.[1]
Structure
The MT-TV gene is located on the
tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.[3]
Function
MT-TV is a small 69 nucleotide
translation
.
In animals, more specifically vertebrates, MT-tRNAVal performs an integral structural role for the mitoribosome by filling in the position of a missing 5S mitoribosomal RNA.[4]
Clinical significance
Mutations in MT-TV which impair oxidate phosphorylation result in
seizures, and other problems affecting the nervous system. Two specific mutations of 1642G>A and 1644G>A have been found to result in the disease.[5]
Changes in the gene have also been associated with
childhood. A 1624C>T mutation has been linked to this disease.[6]
Other clinical manifestations associated with MT-TV mutations have included recurrent
learning disabilities, dementia, and more. It has not been found why such mutations cause symptoms of these diseases.[5] A 1606A>G mutation resulted in ataxia accompanied by progressive seizures, mental deterioration, and hearing loss.[7] Cardiomyopathy, which weakens and enlarges the heart muscle, has also been reported in a small number of affected individuals.[5]
References
- S2CID 4355527.
- ^ "MT-TV mitochondrially encoded tRNA valine [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
- ^ "tRNA / transfer RNA". Learn Science at Scitable.
- PMID 25278503.
- ^ a b c "MT-TH gene". Genetics Home Reference.
This article incorporates text from this source, which is in the public domain.
- S2CID 10940372.
- S2CID 25775432.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.