Survival motor neuron deficiency slows myoblast fusion through reduced myomaker and myomixer expression.

ABSTRACT:

Background

Spinal muscular atrophy is an inherited neurodegenerative disease caused by insufficient levels of the survival motor neuron (SMN) protein. Recently approved treatments aimed at increasing SMN protein levels have dramatically improved patient survival and have altered the disease landscape. While restoring SMN levels slows motor neuron loss, many patients continue to have smaller muscles and do not achieve normal motor milestones. While timing of treatment is important, it remains unclear why SMN restoration is insufficient to fully restore muscle size and function. We and others have shown that SMN-deficient muscle precursor cells fail to efficiently fuse into myotubes. However, the role of SMN in myoblast fusion is not known.

Methods

In this study, we show that

SUBMITTER: McCormack NM 

PROVIDER: S-EPMC8350220 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature