Muscle Weakness: Berlin Scientists Unravel Defects in Rare Hereditary Disease Myotubular Myopathy

Study by Leibniz Institute für Molecular Pharmacology and Freie Universität Berlin in Cooperation with Institut Génétique Biologie Moléculaire Cellulaire (IGBMC), Strasbourg and European Molecular Biology Laboratory, Heidelberg. Tiny deviations in the body's cells can sometimes have severe consequences. Researchers from Berlin have discovered why cells from patients suffering from the rare muscular disease myotubular myopathy cannot function properly. Through the paper published in Nature, it has become clear how a dynamic cellular process essential to muscle development and function is regulated by means of minute changes of certain membrane lipids. If a child is born with myotubular myopathy, the most severe form of centronuclear myopathies (also called XLCNM), it is barely able to breathe independently. The muscles are atrophied, the newborn lies limp in its mother's arms and is too weak to feed. Babies with this rare muscular disease might not survive the first few months of their lives.