Mitochondrial ND1 gene
The mitochondrial gene MT-ND1 encodes an enzyme responsible for electron tranport on the inner mitochondrial membrane. It is subunit 1 of the respiratory complex I. The gene is encoded by nucleotides 3307-4262. Diseases caused by mutations include MELAS syndrome, Leber hereditary optic neuropathy, Alzheimer disease, Parkinson disease, dystonia, colorectal cancer, sudden infant death syndrome, sensorineural deafness, and mitochondrial complex I deficiency, mitochondrial type 3. 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. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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2. |
Majander A et al. (1991) Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
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3. |
Howell N et al. (1991) Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
|
4. |
Bet L et al. (1990) A case of mitochondrial myopathy, lactic acidosis and complex I deficiency.
|
5. |
Gutiérrez Cortés N et al. (2012) Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
|
6. |
Loveland B et al. (1990) Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein.
|
7. |
Ohnishi T et al. (1985) EPR studies of iron-sulfur clusters in isolated subunits and subfractions of NADH-ubiquinone oxidoreductase.
|
8. |
Suzuki H et al. (1986) An ubiquinone-binding protein in mitochondrial NADH-ubiquinone reductase (Complex I).
|
9. |
Galante YM et al. (1979) Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase.
|
10. |
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.
|
11. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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12. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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13. |
Onishi T et al. (1974) Low temperature electron paramagnetic resonance studies on iron-sulfur centers in cardiac NADH dehydrogenase.
|
14. |
Attardi G et al. (1983) Analysis of human mitochondrial RNA.
|
15. |
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.
|
16. |
Opdal SH et al. (1999) Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome.
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17. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
|
18. |
Ragan CI et al. (1982) Resolution of mitochondrial NADH dehydrogenase and isolation of two iron-sulfur proteins.
|
19. |
Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.
|
20. |
Earley FG et al. (1984) Photoaffinity labelling of mitochondrial NADH dehydrogenase with arylazidoamorphigenin, an analogue of rotenone.
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21. |
Ragan CI et al. (1982) Purification of three iron-sulfur proteins from the iron-protein fragment of mitochondrial NADH-ubiquinone oxidoreductase.
|
22. |
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.
|
23. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
|
24. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
|
25. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
|
26. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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27. |
Chen S et al. (1981) Studies on the interaction of arylazido-beta-alanyl NAD+ with the mitochondrial NADH dehydrogenase.
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28. |
Shoffner JM et al. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.
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29. |
Paulus W et al. (1993) Central nervous system involvement in Leber's optic neuropathy.
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30. |
Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.
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31. |
Johns DR et al. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
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32. |
Kirby DM et al. (2004) Mutations of the mitochondrial ND1 gene as a cause of MELAS.
|
33. |
Rocha H et al. (1999) About the "Pathological" role of the mtDNA T3308C mutationellipsis.
|
34. |
Lang BF et al. (1999) Mitochondrial genome evolution and the origin of eukaryotes.
|
35. |
Musumeci O et al. (2000) Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
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36. |
Wong A et al. (2002) Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.
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37. |
Herrnstadt C et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.
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38. |
Kim JY et al. (2002) Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.
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39. |
Adams KL et al. (2002) Punctuated evolution of mitochondrial gene content: high and variable rates of mitochondrial gene loss and transfer to the nucleus during angiosperm evolution.
|
40. |
Simon DK et al. (2003) A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.
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41. |
Ahmed I et al. (1992) The non-equivalence of binding sites of coenzyme quinone and rotenone in mitochondrial NADH-CoQ reductase.
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42. |
None (1956) On the origin of cancer cells.
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43. |
Johns DR et al. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
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44. |
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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45. |
Obayashi T et al. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy.
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46. |
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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47. |
Howell N et al. (1991) Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
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48. |
Lévêque M et al. (2007) Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
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49. |
Jaros E et al. (2007) Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy.
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50. |
Spruijt L et al. (2007) A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
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51. |
Howell N et al. (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.
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52. |
Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
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53. |
Huoponen K et al. (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
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54. |
Hinttala R et al. (2006) Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.
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55. |
Blakely EL et al. (2006) Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.
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56. |
Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.
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57. |
Munakata K et al. (2004) Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder.
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58. |
Valentino ML et al. (2004) The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
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59. |
None (1992) Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.
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60. |
Johns DR et al. (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.
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61. |
OMIM.ORG article
Omim 516000
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62. |
Orphanet article
Orphanet ID 123537
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63. |
NCBI article
NCBI 4535
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64. |
Wikipedia article
Wikipedia EN (MT-ND1)
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Update: Aug. 14, 2020