Mitochondrial TRNV gene
The mitochondrial gene MT-TV encodes a transport RNA (tRNA) for valine (V). The gene is encoded by nucleotides 1602-1670. Diseases caused by mutations include Leigh syndrome, ataxia, seizures, dementia, sensorineural deafness, and Charcot–Marie–Tooth disease. The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
McFarland R et al. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
|
2. |
Sacconi S et al. (2002) Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
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3. |
Tiranti V et al. (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
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4. |
Orphanet article
Orphanet ID 267449
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5. |
NCBI article
NCBI 4577
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6. |
OMIM.ORG article
Omim 590105
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Update: Aug. 14, 2020