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Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Montero, Raquel; Grazina, Manuela; López-Gallardo, Ester; Montoya, Julio; Briones, Paz; Navarro-Sastre, Aleix; Land, John M.; Hargreaves, Iain P.We evaluated coenzyme Q10 (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n = 39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann–Whitney-U test: p = 0.001). Our findings suggest that MDS are f...
Valor da Citrulinémia na Avaliação da Função Intestinal na Síndroma do Intestin...
Introdução: Diversos estudos sugerem que a citrulinémia pode constituir um parâmetro objectivo e reprodutível da massa enterocitária funcionante. Objectivos: Analisar o valor da citrulinémia na avaliação da função intestinal na síndroma do intestino curto. Material e métodos: Realizou-se um estudo caso-controlo, incluindo 11 doentes com síndroma do intestino curto, resultante de enterectomia extensa e 11 indiví...
Frontotemporal dementia and mitochondrial DNA transitions
Grazina, Manuela; Silva, Filipe; Santana, Isabel; Santiago, Beatriz; Mendes, Cândida; Simões, Marta; Oliveira, Miguel; Cunha, Luís; Oliveira, CatarinaFrontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease (AD) and FTD both in neuropathological and clinical aspects. This may suggest a similar overlap in physiopathology, namely an involvement of mitochondrial DNA (mtDNA) in FTD, as it has been associated to AD. To determine if mtDNA is involved in FTD, we perfo...
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