Mitochondrial ATP6 gene
The mitochondrial gene MT-ATP6 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 6 of the respiratory complex IV. The gene is encoded by nucleotides 8527-9207. Diseases caused by mutations include NARP syndrome, Leber hereditary optic neuropathy, mitochondrial complex IV deficiency, mental retardation, ataxia, cardiomyopathy, bilateral striatal necrosis, seizures, and lactic acidosis. Also an association with Parkinson disease is discussed. 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. |
De Meirleir L et al. (1995) Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
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2. |
Ware SM et al. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
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3. |
Kucharczyk R et al. (2009) Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology.
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4. |
Sgarbi G et al. (2009) Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.
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5. |
D'Aurelio M et al. (2010) Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.
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6. |
Holt IJ et al. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
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7. |
van Erven PM et al. (1987) Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.
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8. |
Thyagarajan D et al. (1995) A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
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9. |
Lamminen T et al. (1995) A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.
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10. |
Pastores GM et al. (1994) Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
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11. |
Trounce I et al. (1994) Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
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12. |
Ciafaloni E et al. (1993) Maternally inherited Leigh syndrome.
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13. |
Santorelli FM et al. (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
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14. |
de Vries DD et al. (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
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15. |
Seneca S et al. (1996) A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.
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16. |
Rahman S et al. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities.
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17. |
de Coo IF et al. (1996) Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation.
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18. |
Degoul F et al. (1995) Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation.
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19. |
Blok RB et al. (1997) Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.
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20. |
Campos Y et al. (1997) Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
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21. |
Ferlin T et al. (1997) Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome.
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22. |
Dionisi-Vici C et al. (1998) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
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23. |
Takahashi S et al. (1998) De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
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24. |
Fujii T et al. (1998) Phenotypic differences between T>C and T>G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.
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25. |
Makino M et al. (1998) Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
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26. |
Chakrapani A et al. (1998) A family with Leigh syndrome caused by the rarer T8993C mutation.
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27. |
Kempken F et al. (1998) Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant.
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28. |
Debray FG et al. (2007) Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.
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29. |
Temperley RJ et al. (2003) Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.
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30. |
Yoneda M et al. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.
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31. |
White SL et al. (1999) Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.
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32. |
White SL et al. (1999) Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.
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33. |
White SL et al. (1999) Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.
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34. |
Baracca A et al. (2000) Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a.
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35. |
Kerrison JB et al. (2000) Retinopathy of NARP syndrome.
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36. |
Hayashi N et al. (2000) Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.
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37. |
Nijtmans LG et al. (2001) Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.
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38. |
Carrozzo R et al. (2001) The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
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39. |
Geromel V et al. (2001) Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
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40. |
Porto FB et al. (2001) Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.
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41. |
Srivastava S et al. (2001) Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease.
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42. |
Vilarinho L et al. (2001) Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.
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43. |
Craig K et al. (2007) Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
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44. |
Jung J et al. (2007) NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy.
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45. |
Castagna AE et al. (2007) Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
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46. |
Rantamäki MT et al. (2005) Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
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47. |
Tatuch Y et al. (1992) Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
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48. |
Harding AE et al. (1992) Prenatal diagnosis of mitochondrial DNA8993 T----G disease.
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49. |
Mattiazzi M et al. (2004) The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.
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50. |
Elson JL et al. (2004) Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.
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51. |
Shoffner JM et al. (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
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52. |
Mishmar D et al. (2003) Natural selection shaped regional mtDNA variation in humans.
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53. |
Manfredi G et al. (2002) Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.
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54. |
Carelli V et al. (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.
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55. |
Orphanet article
Orphanet ID 123508
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56. |
NCBI article
NCBI 4508
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57. |
OMIM.ORG article
Omim 516060
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58. |
Wikipedia article
Wikipedia EN (MT-ATP6)
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Update: Aug. 14, 2020