Liver SMN restoration rescues the Smn^2B/- mouse model of spinal muscular atrophy.

ABSTRACT:

Background

The liver is a key metabolic organ, acting as a hub to metabolically connect various tissues. Spinal muscular atrophy (SMA) is a neuromuscular disorder whereby patients have an increased susceptibility to developing dyslipidaemia and liver steatosis. It remains unknown whether fatty liver is due to an intrinsic or extrinsic impact of survival motor neuron (SMN) protein depletion.

Methods

Using an adeno-associated viral vector with a liver specific promoter (albumin), we restored SMN protein levels in the liver alone in Smn^2B/- mice, a model of SMA. Experiments assessed central and peripheral impacts using immunoblot, immunohistochemistry, and electron microscopy techniques.

Findings

We demonstrate that AAV9-albumin-SMN successfully expresses SMN

SUBMITTER: Sutton ER 

PROVIDER: S-EPMC11583733 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature