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Title: Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
Author: Ferreira, M.
Torraco, A.
Rizza, T.
Fattori, F.
Meschini, M.C.
Castana, C.
Go, N.E.
Nargang, F.E.
Duarte, M.
Piemonte, F.
Dionisi-Vici, C.
Videira, A.
Vilarinho, L.
Santorelli, F.M.
Carrozzo, R.
Bertini, E.
Keywords: Complex I
Lactic Acidosis
Doenças Genéticas
Issue Date: 2011
Publisher: Springer Verlag
Citation: Neurogenetics. 2011 Feb;12(1):9-17. Epub 2011 Jan 4
Abstract: We present clinical, neuroimaging, and molecular data on the identification of a new homozygous c.1783A>G (p.Thr595Ala) mutation in NDUFS1 in two inbred siblings with isolated complex I deficiency associated to a progressive cavitating leukoencephalopathy, a clinical and neuroradiolog- ical entity originally related to unknown defects of the mitochondrial energy metabolism. In both sibs, the muscle biopsy showed severe reduction of complex I enzyme activity, which was not obvious in fibroblasts. We also observed complex I dysfunction in a Neurospora crassa model of the disease, obtained by insertional mutagenesis, and in patient fibroblasts grown in galactose. Altogether, these results indicate that the NDUFS1 mutation is responsible for the disease and complex I deficiency. Clinical presentation of complex I defect is heterogeneous and includes an ample array of clinical phenotypes. Expanding the number of allelic variants in NDUFS1, our findings also contribute to a better understanding on the function of complex I
Peer review: yes
ISSN: 1364-6745
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Appears in Collections:DGH - Artigos em revistas internacionais

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