Alterations in cardiac function correlate with a disruption in fatty acid metabolism in a mouse model of SMA.

ABSTRACT: Spinal Muscular Atrophy is an autosomal dominant disease caused by mutations and deletions within the SMN1 gene, with predominantly childhood onset. Although primarily a motor neuron disease, defects in non-neuronal tissues are described in both patients and mouse models. Here, we have undertaken a detailed study of the heart in the Smn2B/- mouse models of SMA, and reveal a thinning of the ventriclar walls as previously described in more severe mouse models of SMA. However most structural changes are resolved by accounting for the smaller body size of the SMA mouse, as was also confirmed in the SMN∆7 model. Echocardiography revealed increased systolic function, which was particularly pronounced in subsets of mice and an increase in global longitudinal strain, collectively indicative of inc

SUBMITTER: Nair NN 

PROVIDER: S-EPMC11891873 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature