Wednesday, 21 December 2022 13:43

Rare muscle disease in the petri dish Featured

Researchers from Göttingen have developed skeletal muscles from human stem cells in their laboratory. The goal is to be able to test the efficacy of drugs without animal testing.

The research team, led by Dr. Malte Tiburcy, head of the "Modeling of Muscle Diseases" group at the Institute of Pharmacology and Toxicology of the University Medical Center Göttingen, is studying not only normal human muscle development and its natural muscle regeneration but above all especially rare disease processes such as "Duchenne muscular dystrophy". In this disease, severe muscle weakness already occurs in childhood, progresses rapidly, and leads to the early death of the patient. In vitro models are highly demanded here, because comparatively few patients are affected and so far there are no or only insufficient treatment options.

The team of scientists developed the muscles from induced pluripotent stem cells. These were derived from patients' stem cells after taking a skin or blood sample. Using the pluripotent stem cells, the team was able to artificially recreate the muscles with Dunenne muscular dystrophy.

The researchers have already been able to reduce muscle weakness with the help of the CRISPR genetic engineering method.

The team published their research in the Journal of Cachexia, Sarcopenia and Muscle:
Shahriyari M, Islam MR, Sakib SM, Rinn M, Rika A, Krüger D, Kaurani L, Gisa V, Winterhoff M, Anandakumar H, Shomroni O, Schmidt M, Salinas G, Unger A, Linke WA, Zschüntzsch J, Schmidt J, Bassel-Duby R, Olson EN, Fischer A, Zimmermann WH, Tiburcy M. Engineered skeletal muscle re-capitulates human muscle development, regeneration and dystrophy. J Cachexia Sarcopenia Muscle. 2022 Oct 18. doi: 10.1002/jcsm.13094. epub ahead of print. PMID: 36254806.