Mitochondrial ND2 gene
The mitochondrial gene MT-ND2 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 2 of the respiratory complex I. The gene is encoded by nucleotides 4470-5511. Diseases caused by mutations include Leigh syndrome, Leber hereditary optic neuropathy, 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 |
Related Diseases:
References:
1. |
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.
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2. |
Cummins JM et al. (1998) Fate of microinjected spermatid mitochondria in the mouse oocyte and embryo.
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3. |
Shitara H et al. (1998) Maternal inheritance of mouse mtDNA in interspecific hybrids: segregation of the leaked paternal mtDNA followed by the prevention of subsequent paternal leakage.
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4. |
Tanaka M et al. (1998) Mitochondrial genotype associated with longevity.
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5. |
Gyllensten U et al. (1991) Paternal inheritance of mitochondrial DNA in mice.
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6. |
Pulkes T et al. (2005) Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.
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7. |
Yao YG et al. (2002) Mitochondrial DNA 5178A polymorphism and longevity.
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8. |
Schwartz M et al. (2002) Paternal inheritance of mitochondrial DNA.
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9. |
Kokaze A et al. (2001) Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population.
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10. |
Brown MD et al. (2001) Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.
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11. |
Shitara H et al. (2000) Selective and continuous elimination of mitochondria microinjected into mouse eggs from spermatids, but not from liver cells, occurs throughout embryogenesis.
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12. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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13. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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14. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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15. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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16. |
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.
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17. |
Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.
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18. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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19. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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20. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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21. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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22. |
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.
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23. |
Johns DR et al. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
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24. |
Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
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25. |
Hinttala R et al. (2006) Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.
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26. |
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?
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27. |
Orphanet article
Orphanet ID 123542
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28. |
NCBI article
NCBI 4536
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29. |
OMIM.ORG article
Omim 516001
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Update: Aug. 14, 2020