Immune cells reveal widespread SMN protein loss in spinal muscular atrophy

AI Summary

Researchers from TWINCORE, the Center for Experimental and Clinical Infection Research, and Hannover Medical School have discovered that spinal muscular atrophy, a neurodegenerative disorder caused by SMN1 gene defects, also affects immune cells. This finding broadens understanding of SMA beyond muscular impact, highlighting immune system involvement.

Spinal muscular atrophy (SMA) is a neurodegenerative disorder that leads to muscle loss and can severely impair the mobility of those affected. It is usually caused by a defect in the SMN1 gene, which is expressed in all cells of the body. Whether this mutation also affects the immune system remains largely underexplored. That is precisely what researchers from TWINCORE, the Center for Experimental and Clinical Infection Research, and Hannover Medical School (MHH) have now investigated. Their findings have been published in the Journal of Clinical Investigation.