Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The mitochondrial gene MT-TL2 encodes a transport RNA (tRNA) for leucine (L), triplet CUN (N for C, U, G, or A). The gene is encoded by nucleotides 12266-12336. Diseases caused by mutations include cardiomyopathy, myopathy, and encephalomyopathy. 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. |
Tessa A et al. (1999) MtDNA-related idiopathic dilated cardiomyopathy. 
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| 2. |
Grasso M et al. (2001) The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.
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| 3. |
Fu K et al. (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
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| 4. |
Weber K et al. (1997) A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.
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| 5. |
NCBI article NCBI 4568
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| 6. |
OMIM.ORG article Omim 590055
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| 7. |
Orphanet article Orphanet ID 183924
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