Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The mitochondrial gene MT-TF encodes a transport RNA (tRNA) for phenylalanine (F). The gene is encoded by nucleotides 577-647. Diseases caused by mutations include MELAS and MERFF syndromes, myopathy, epilepsy, encephalopathy, and tubulointerstitial nephropathy. 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. |
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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