Neuromuscular diseases: A pharmacological therapeutic approach for certain sarcoglycanopathies

A research team led by Dr Isabelle Richard (CNRS-FRE3087) from the Genethon laboratory financed by the AFM through Téléthon donations has just demonstrated the efficacy of a novel pharmacological strategy in the mouse for certain mutations of alpha-sarcoglycanopathy or LGMD2D, a recessive limb girdle dystrophy. This pharmacological strategy could be applied to other limb girdle muscular dystrophies characterised by the same type of genetic mutation. This work is published online in the review Human Molecular Genetics.

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Bibliography :

Bartoli, M., Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-lacaze, N., Perez, N., Udd, B., Danos, O. and Richard, I.: “Mannosidase I inhibition rescues the human {alpha}-sarcoglycan R77C recurrent mutation”. Hum. Mol. Genet. Advance Access published online on February 5, 2008 (2008).