Spinal muscular atrophy (SMA) is one of the most common monogenetic diseases in children. The major hallmark of this neurodevelopmental disorder is the degeneration of lower motoneurons in the spinal cord, resulting in atrophy of connected muscles. Muscle groups are differentially affected, suggesting that distinct populations of motoneurons are more sensitive to the disease process than others.
While the genetic defect underlying SMA has already been identified in 1995, the mechanism leading to the selective motoneuron loss has not been fully understood. Michael Briese and Michael Sendtner, together with the PhD students Saeede Salehi and Abdolhossein Zare, from the Institute of Clinical Neurobiology of the University Hospital Würzburg want to change this in their project at the Single-Cell Center Würzburg by identifying gene transcripts that confer resistance or susceptibility to motoneuron degeneration. The results of their research could form the basis for the development of new therapies, not only for SMA but also for other motoneuron diseases.