Mitochondrial TRNH gene
The mitochondrial gene MT-TH encodes a transport RNA (tRNA) for histidine (H). The gene is encoded by nucleotides 12138-12206. Diseases caused by mutations include MELAS and MERFF syndromes, retinitis pigmentosa, and sensorineural deafness. 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. |
Mimaki M et al. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.
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2. |
Melone MA et al. (2004) Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
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3. |
Shin WS et al. (2000) A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.
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4. |
Crimi M et al. (2003) A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.
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5. |
Taylor RW et al. (2004) Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.
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6. |
Yan X et al. (2011) Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
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7. |
NCBI article
NCBI 4564
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8. |
OMIM.ORG article
Omim 590040
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9. |
Orphanet article
Orphanet ID 166766
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Update: Aug. 14, 2020