Mitochondrial TRNQ gene
The mitochondrial gene MT-TQ encodes a transport RNA (tRNA) for glutamine(Q). The gene is encoded by nucleotides 4329-4400. Diseases caused by mutations include MELAS syndrome, sensorineural deafness, and myopathy. 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. |
Bataillard M et al. (2001) Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.
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2. |
Dey R et al. (2000) A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop.
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3. |
Finnilä S et al. (2001) Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln.
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4. |
NCBI article
NCBI 4572
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5. |
OMIM.ORG article
Omim 590030
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6. |
Orphanet article
Orphanet ID 138906
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Update: Aug. 14, 2020