Mitochondriales TRNF-Gen
Das mitochondriale Gen mit der offiziellen Bezeichnung MT-TF kodiert die Transport-RNA (tRNA) für Phenylalanin (F). Es wid von den Nukleotiden 577-647 kodiert. Mutationen in diesem Gen können verschiedenen mitochondriale Erkrankungen auslösen. Dazu gehören die MELAS- und MERFF-Syndrome, Myopathie, Epilepsie, Ezephalopathie und tubulointerstitielle Nephropathie. Alle mitochondrialen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Goto Y et al. (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
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2. |
Pavlakis SG et al. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.
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3. |
Tzen CY et al. (2001) Tubulointerstitial nephritis associated with a novel mitochondrial point mutation.
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4. |
Shapira Y et al. (1975) Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.
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5. |
Mancuso M et al. (2004) A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.
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6. |
Deschauer M et al. (2006) Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.
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7. |
Ling J et al. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.
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8. |
Zsurka G et al. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
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9. |
Young TM et al. (2010) Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.
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10. |
Hanna MG et al. (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.
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11. |
NCBI article
NCBI 4558
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12. |
OMIM.ORG article
Omim 590070
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13. |
Orphanet article
Orphanet ID 167909
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Update: 14. August 2020