Work in the Lorson lab at the University of Missouri, the DiDonato lab at Northwestern University, and the Kaspar lab at Nationwide Children’s Hospital have recently shown functional and developmental cardiac defects in two severe models of spinal muscular atrophy (SMA). The studies were conducted with mouse models, not SMA patients, and all three were recently published in the journal Human Molecular Genetics.
According to Dr. Chris Lorson, FightSMA’s Science Director and also an author of one of the studies, “collectively these results highlight the importance of additional tissues in SMA that may contribute to the overall pathology in SMA – most likely in more severe cases. This is especially important when developing and testing potential therapeutics in SMA models and as novel compounds progress towards the clinic.”
Click the links below to read the article abstracts:
- Lorson Lab: Cardiac defects contribute to the pathology of spinal muscular atrophy models
- DiDonato Lab: Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
- Kaspar Lab: Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
