Article
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Jan 2014
Bottani Emanuela, Giordano Carla, Civiletto Gabriele, Di Meo Ivano, Auricchio Alberto, Ciusani Emilio, Marchet Silvia, Lamperti Costanza, d'Amati Giulia, Viscomi Carlo, Zeviani Massimo
Abstract excerpt
Mutations in human MPV17 cause a hepatocerebral form of mitochondrial DNA depletion syndrome (MDS) hallmarked by early-onset liver failure, leading to premature death. Liver transplantation and frequent feeding using slow-release carbohydrates are the only available therapies, although surviving patients eventually develop slowly progressive peripheral and central neuropathy. The physiological role of Mpv17,...
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