Mitochondriales TRNI-Gen
Das mitochondriale Gen mit der offiziellen Bezeichnung MT-TI kodiert die Transport-RNA (tRNA) für Isoleucin (I). Es wid von den Nukleotiden 4263-4331 kodiert. Mutationen in diesem Gen können verschiedenen mitochondriale Erkrankungen auslösen. Dazu gehören Kardiomyopathie, Ezephalopathie, Ataxie, Dysarthrie, Innenohrschwerhörigkeit, geistige Retardierung, Ptosis, Ophthalmoplegie, Diabetes, Hypercholesterinämie, Hypomagnesiämie und Hypertonie. 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. |
Gutiérrez Cortés N et al. (2012) Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
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2. |
Tomari Y et al. (2003) Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation.
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3. |
Corona P et al. (2002) Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.
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4. |
Taylor RW et al. (2003) A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.
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5. |
Limongelli A et al. (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.
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6. |
Levinger L et al. (2004) Mitochondrial tRNA 3' end metabolism and human disease.
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7. |
Wilson FH et al. (2004) A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.
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8. |
Taniike M et al. (1992) Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.
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9. |
Tanaka M et al. (1990) Mitochondrial mutation in fatal infantile cardiomyopathy.
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10. |
Merante F et al. (1996) An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.
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11. |
Degoul F et al. (1998) Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene.
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12. |
NCBI article
NCBI 4565
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13. |
OMIM.ORG article
Omim 590045
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Update: 14. August 2020