Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The mitochondrial gene MT-TN encodes a transport RNA (tRNA) for asparagine (N). The gene is encoded by nucleotides 5657-5729. Diseases caused by mutations include ophthalmoplegia and mitochondrial complex I deficiency. 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. |
Vives-Bauza C et al. (2003) Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA. 
|
| 2. |
Meulemans A et al. (2006) A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.
|
| 3. |
Seibel P et al. (1994) Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.
|
| 4. |
None (1993) Heavy traffic at a dual-purpose human mitochondrial tRNA gene.
|
| 5. |
Moraes CT et al. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
|
| 6. |
Hao H et al. (1997) A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).
|
| 7. |
NCBI article NCBI 4570
|
| 8. |
OMIM.ORG article Omim 590010
|
| 9. |
Orphanet article Orphanet ID 364766
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |