Expression of NMNAT1 in the photoreceptors is sufficient to prevent NMNAT1-associated retinal degeneration.

ABSTRACT: Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) is a ubiquitously expressed enzyme involved in nuclear NAD⁺ production throughout the body. However, mutations in the NMNAT1 gene lead to retina-specific disease with few reports of systemic effects. We have previously demonstrated that AAV-mediated gene therapy using self-complementary AAV (scAAV) to ubiquitously express NMNAT1 throughout the retina prevents retinal degeneration in a mouse model of NMNAT1-associated disease. We aimed to develop a better understanding of the cell types in the retina that contribute to disease pathogenesis in NMNAT1-associated disease, and to identify the cell types that require NMNAT1 expression for therapeutic benefit. To achieve this goal, we treated Nmnat1

SUBMITTER: Brown EE 

PROVIDER: S-EPMC10193288 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature