Mitochondrial TRNE gene
The mitochondrial gene MT-TE encodes a transport RNA (tRNA) for glutamic acid (E). The gene is encoded by nucleotides 14674-14742. Diseases caused by mutations include myopathy, diabetes, 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. |
Vialettes BH et al. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
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2. |
Damore ME et al. () Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.
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3. |
Rigoli L et al. (2001) Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family.
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4. |
Perucca-Lostanlen D et al. (2002) Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.
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5. |
McFarland R et al. (2004) Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.
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6. |
Horvath R et al. (2009) Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
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7. |
Mimaki M et al. (2010) Reversible infantile respiratory chain deficiency: a clinical and molecular study.
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8. |
Uusimaa J et al. (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
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9. |
Hudgson P et al. (1972) Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings.
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10. |
Hao H et al. (1995) Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.
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11. |
Hanna MG et al. (1995) Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.
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12. |
Orphanet article
Orphanet ID 140514
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13. |
NCBI article
NCBI 4556
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14. |
OMIM.ORG article
Omim 590025
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Update: Aug. 14, 2020