Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The mitochondrial gene MT-TS2 encodes a transport RNA (tRNA) for serine (S), triplet AGY (Y for C or U). Diseases caused by mutations include MELAS and MERF syndroms, ataxia, and cataract. 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. |
Mansergh FC et al. (1999) Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. 
|
| 2. |
Wong LJ et al. (2006) A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.
|
| 3. |
Lynn S et al. (1998) Mitochondrial diabetes: investigation and identification of a novel mutation.
|
| 4. |
Orphanet article Orphanet ID 167905
|
| 5. |
NCBI article NCBI 4575
|
| 6. |
OMIM.ORG article Omim 590085
|
 |
Copyright © 2005-2024 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 |
