Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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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