Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Mitochondriales ND3-Gen

Das mitochondriale Gen mit der offiziellen Bezeichnung MT-ND3 kodiert ein Enzym des Elektronentransportes auf der inneren Mitochondrienmembran. Es ist die Untereinheit 3 des respiratorischen Komplexes I. Das Gen wid von den Nukleotiden 10059-10404 kodiert. Mutationen können den mitochondrialen Komplex I-Mangel auslösen und werden auch im Zusammenhang mit Parkinsonismus diskutiert. Alle mitochondrialen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex?

external link
2.

Yatscoff RW et al. (1978) Conservation of genes coding for proteins synthesized in human mitochondria.

external link
3.

Oliver NA et al. (1983) Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.

external link
4.

Spinner NB et al. (1986) Polymorphisms of mitochondrially encoded proteins.

external link
5.

None (1986) Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance.

external link
6.

Wang K et al. (2009) Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

external link
7.

Chae JH et al. (2007) A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.

external link
8.

Sarzi E et al. (2007) A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

external link
9.

Bhat A et al. (2007) The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study.

external link
10.

Pyle A et al. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

external link
11.

Kirby DM et al. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

external link
12.

McFarland R et al. (2004) De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

external link
13.

van der Walt JM et al. (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.

external link
14.

Taylor RW et al. (2001) Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

external link
15.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

external link
16.

Herrnstadt C et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.

external link
17.

Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.

external link
18.

Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

external link
19.

Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.

external link
20.

Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

external link
21.

Chomyn A et al. (1983) Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA.

external link
22.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

external link
23.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

external link
24.

Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

external link
25.

Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

external link
26.

Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

external link
27.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

external link
28.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

external link
29.

NCBI article

NCBI 4537 external link
30.

OMIM.ORG article

Omim 516002 external link
31.

Orphanet article

Orphanet ID 123547 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum