Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome.

ABSTRACT: SURF1 (surfeit locus protein 1)-related Leigh syndrome is an early-onset neurodegenerative disorder, characterized by reduction in complex IV activity, resulting in disrupted mitochondrial function. Currently, there are no treatment options available. To test our hypothesis that adeno-associated viral vector serotype 9 (AAV9)/human SURF1 (hSURF1) gene replacement therapy can provide a potentially meaningful and long-term therapeutic benefit, we conducted preclinical efficacy studies using SURF1 knockout mice and safety evaluations with wild-type (WT) mice. Our data indicate that with a single intrathecal (i.t.) administration, our treatment partially and significantly rescued complex IV activity in all tissues tested, including liver, brain, and muscle. Accordin

SUBMITTER: Ling Q 

PROVIDER: S-EPMC8517205 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature