Amyotrophic lateral sclerosis (ALS) is a still incurable degenerative disease of the central nervous system. The loss of motor neurons leads to paralysis and often to death within a few years. With the exception of rare hereditary forms, the cause of the disease is still unknown.

For their investigations, the scientists used a human ALS skeletal muscle in vitro model (Human-on-a-Chip® functional NMJ system), whose technology has been licensed to Hesperos. Hesperos was founded by Dr. James J. Hickman and Dr. Michael L. Shuler.

In comparison to human skeletal muscle from healthy subjects (wild type), skeletal muscle developed from two different lines of induced pluripotent stem cells (iPSCs) of ALS patients showed mutations in the superoxide dismutase 1 (SOD1) gene, resulting in reduced fusion ability, myotube length and expression of the acetylcholine receptor. There was also an impairment of contractile strength and synchronicity and the metabolism of the muscle fiber.

The findings were published in Scientific Reports:
Badu-Mensah, A., Guo, X., McAleer, C.W. et al. (2020). Functional skeletal muscle model derived from SOD1-mutant ALS patient iPSCs recapitulates hallmarks of disease progression. Sci Rep 10, 14302. https://doi.org/10.1038/s41598-020-70510-3

Source:
https://hesperosinc.com/unraveling-the-pathologic-role-of-skeletal-muscle-in-als/