Mitochondrial ND6 gene
The mitochondrial gene MT-ND6 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 6 of the respiratory complex I. The gene is encoded by nucleotides 14149-14673. Diseases caused by mutations include Leigh and MELAS syndromes, Leber hereditary optic neuropathy, cardiomyopathy, dystonia, Parkinson disease, mitochondrial complex I deficiency, and oncocytoma. 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. |
Fan W et al. (2008) A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.
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2. |
Valentino ML et al. (2002) Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
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3. |
Funalot B et al. (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
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4. |
Howell N et al. (2003) Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
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5. |
Nishioka T et al. (2003) Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.
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6. |
Solano A et al. (2003) Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.
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7. |
Ugalde C et al. (2003) Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
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8. |
Mackey D et al. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.
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9. |
Gropman A et al. (2004) Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.
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10. |
Laberge AM et al. (2005) A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.
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11. |
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12. |
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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13. |
Ishikawa K et al. (2008) ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis.
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14. |
Elliott HR et al. (2008) Pathogenic mitochondrial DNA mutations are common in the general population.
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15. |
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16. |
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17. |
Shoffner JM et al. (1995) Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.
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18. |
Jun AS et al. (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
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19. |
Johns DR et al. (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.
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20. |
Brown MD et al. (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.
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21. |
Carelli V et al. (1998) Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient.
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22. |
Kirby DM et al. (2000) Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
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23. |
Johns DR et al. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
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24. |
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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25. |
Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.
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26. |
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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27. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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28. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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29. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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30. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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31. |
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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32. |
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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33. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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34. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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35. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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36. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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37. |
De Vries DD et al. (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
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38. |
Piccoli C et al. (2008) Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism.
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39. |
Ravn K et al. (2001) An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
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40. |
Carelli V et al. (1999) Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.
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41. |
Macmillan C et al. (2000) Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.
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42. |
Chinnery PF et al. (2001) The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
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43. |
Orphanet article
Orphanet ID 123567
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44. |
NCBI article
NCBI 4541
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45. |
OMIM.ORG article
Omim 516006
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46. |
Wikipedia article
Wikipedia EN (MT-ND6)
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Update: Aug. 14, 2020