Mitochondrial TRNW gene
The mitochondrial gene MT-TW encodes a transport RNA (tRNA) for tryptophan (W). The gene is encoded by nucleotides 5512-5576. Diseases caused by mutations include encephalopathy, myopathy, encephalomyopathy, cardiomyopathy, seizures, sensorineural deafness, retinitis pigmentosa, ophthalmoplegia, and ptosis. 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. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
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2. |
Tulinius M et al. (2003) Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.
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3. |
Maniura-Weber K et al. (2004) A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
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4. |
Sacconi S et al. (2008) A functionally dominant mitochondrial DNA mutation.
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5. |
Nelson I et al. (1995) A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.
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6. |
Santorelli FM et al. (1997) Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
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7. |
Silvestri G et al. (1998) A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.
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8. |
NCBI article
NCBI 4578
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9. |
OMIM.ORG article
Omim 590095
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10. |
Orphanet article
Orphanet ID 160307
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Update: Aug. 14, 2020