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

Mitochondriales ATP6-Gen

Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.


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

Verknüpfte Erkrankungen:



De Meirleir L et al. (1995) Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.

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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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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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Sgarbi G et al. (2009) Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.

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D'Aurelio M et al. (2010) Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.

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Holt IJ et al. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

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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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Thyagarajan D et al. (1995) A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

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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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Pastores GM et al. (1994) Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

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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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Ciafaloni E et al. (1993) Maternally inherited Leigh syndrome.

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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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de Vries DD et al. (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

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Seneca S et al. (1996) A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.

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Rahman S et al. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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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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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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Blok RB et al. (1997) Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

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Campos Y et al. (1997) Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

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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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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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Takahashi S et al. (1998) De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

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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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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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Chakrapani A et al. (1998) A family with Leigh syndrome caused by the rarer T8993C mutation.

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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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Debray FG et al. (2007) Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.

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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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Yoneda M et al. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

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White SL et al. (1999) Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

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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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White SL et al. (1999) Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

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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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Kerrison JB et al. (2000) Retinopathy of NARP syndrome.

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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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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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Carrozzo R et al. (2001) The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

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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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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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Srivastava S et al. (2001) Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease.

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Carelli V et al. (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.

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Vilarinho L et al. (2001) Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

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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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Mishmar D et al. (2003) Natural selection shaped regional mtDNA variation in humans.

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Shoffner JM et al. (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.

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Elson JL et al. (2004) Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.

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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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Harding AE et al. (1992) Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

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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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Rantamäki MT et al. (2005) Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

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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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Jung J et al. (2007) NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy.

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Craig K et al. (2007) Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

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Orphanet article

Orphanet ID 123508 external link

NCBI article

NCBI 4508 external link

OMIM.ORG article

Omim 516060 external link
Update: 14. August 2020
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