Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aL<sub>217</sub>R) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases.
|
30414414 |
2019 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The m.8993T>G mutation of the mitochondrial MT-ATP6 gene has been associated with numerous cases of neuropathy, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh Syndrome (MILS), which are diseases known to result from abnormalities affecting mitochondrial energy production.
|
31276579 |
2019 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MT-ATP6 gene of mtDNA have been shown to cause NARP syndrome without renal involvement.
|
29224958 |
2018 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome.
|
29054413 |
2017 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study we report a 30-year-old man with NARP and m.8993T>G in MT-ATP6.
|
27015314 |
2016 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
Biomarker
|
disease |
CTD_human |
Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation.
|
27129022 |
2016 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in MT-ATP6 are associated with the Leigh syndrome, the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP), as well as with non-classical phenotypes, while MT-ATP8 is less frequently mutated in patients with mitochondrial disease.
|
27502083 |
2016 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.
|
24118886 |
2013 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6.
|
23266623 |
2013 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is associated with the T8993G transversion in ATP6 gene which results in substitution at the very conservative site in the subunit 6 of mitochondrial ATP synthase.
|
20138159 |
2011 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the mitochondrial DNA (mtDNA) encoded subunit 6 of ATPase (ATP6) are associated with variable disease expression, ranging from adult onset neuropathy, ataxia and retinitis pigmentosa (NARP) to fatal childhood maternally inherited Leigh's syndrome (MILS).
|
19875463 |
2010 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of NARP patients cannot be limited to the search of the m.8993T>G/C and either the ATP6 or the whole mtDNA should be sequenced.
|
19124644 |
2009 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we show that this approach leads to a long-lasting and complete rescue of mitochondrial dysfunction of fibroblasts harboring the neurogenic muscle weakness, ataxia and retinitis Pigmentosa T8993G ATP6 mutation or the Leber hereditary optic neuropathy G11778A ND4 mutation.
|
17518546 |
2007 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa (NARP), is due to a mutation in the ATPase-6 gene.
|
15282179 |
2004 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome.
|
9511882 |
1998 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
|
8190310 |
1994 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Maternally inherited Leigh syndrome.
|
8095070 |
1993 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prenatal diagnosis of mitochondrial DNA8993 T----G disease.
|
1539598 |
1992 |
Neuropathy ataxia and retinis pigmentosa
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
|
2137962 |
1990 |
Optic Atrophy, Hereditary, Leber
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Two homoplasmic pathogenic variants (m.9035T>C and m.11778G>A) were identified in 2 out of 928 unrelated individuals (0.2%): the m.9035T>C (MT-ATP6) variant in a female with ataxia and the m.11778G>A (MT-ND4) variant in a male with a complex mosaic disorder and a severe ophthalmological phenotype, uncovering undiagnosed Leber's hereditary optic neuropathy (LHON).
|
31379041 |
2019 |
Optic Atrophy, Hereditary, Leber
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP6 gene are reported to be associated with Leber hereditary optic neuropathy, bilateral striatal necrosis, coronary atherosclerosis risk and neuropathy, ataxia and retinitis pigmentosa (NARP)/maternally inherited Leigh syndromes.
|
24118886 |
2013 |
Optic Atrophy, Hereditary, Leber
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON).
|
23266623 |
2013 |
Optic Atrophy, Hereditary, Leber
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a.
|
19026397 |
2008 |
Optic Atrophy, Hereditary, Leber
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
In this study, we show that this approach leads to a long-lasting and complete rescue of mitochondrial dysfunction of fibroblasts harboring the neurogenic muscle weakness, ataxia and retinitis Pigmentosa T8993G ATP6 mutation or the Leber hereditary optic neuropathy G11778A ND4 mutation.
|
17518546 |
2007 |