Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The mitochondrial gene MT-TI encodes a transport RNA (tRNA) for isoleucine (I). The gene is encoded by nucleotides 4263-4331. Diseases caused by mutations include cardiomyopathy, encephalopathy, ataxia, dysarthria, sensorineural deafness, mental retardation, ptosis, ophthalmoplegia, diabetes, hypercholesterolemia, hypomagnesemia, and hypertension. The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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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