AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

Carlo Viscomi & Massimo Zeviani
Leigh syndrome (LS) is the most common infantile mitochondrial encephalopathy. No treatment is currently available for this condition. Mice lacking $\textit{Ndufs4}$, encoding NADH: ubiquinone oxidoreductase iron-sulfur protein 4 recapitulates the main findings of complex I related LS, including severe multisystemic complex I deficiency and progressive neurodegeneration. In order to develop a gene therapy approach for LS, we used here an AAV2/9 vector carrying the human $\textit{NDUFS4}$ coding sequence (hNDUFS4). We administered AAV2/9-$\textit{hNDUFS4}$ by intravenous (IV)...
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