Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Mitochondrial TRNN gene

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.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Vives-Bauza C et al. (2003) Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

external link
2.

Meulemans A et al. (2006) A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

external link
3.

Seibel P et al. (1994) Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.

external link
4.

None (1993) Heavy traffic at a dual-purpose human mitochondrial tRNA gene.

external link
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?

external link
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).

external link
7.

NCBI article

NCBI 4570 external link
8.

OMIM.ORG article

Omim 590010 external link
9.

Orphanet article

Orphanet ID 364766 external link
Update: Aug. 14, 2020
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