Mitochondrial TRNT gene
The mitochondrial gene MT-TT encodes a transport RNA (tRNA) for threonine (T). The gene is encoded by nucleotides 15888-15953. An association with Parkinson disease is discussed. 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. |
Grasbon-Frodl EM et al. (1999) Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease.
|
2. |
Brown MD et al. (1992) Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.
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3. |
Yoon KL et al. (1991) Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.
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4. |
Jia Z et al. (2013) Coronary heart disease is associated with a mutation in mitochondrial tRNA.
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5. |
NCBI article
NCBI 4576
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6. |
OMIM.ORG article
Omim 590090
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7. |
Orphanet article
Orphanet ID 328936
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Update: Aug. 14, 2020