DESMIN – Protein Surplus Myopathies

Location: Naarden, The Netherlands

Subsequent to earlier ENMC-sponsored Workshops on desmin, familial desmin related myopathies and rare congenital myopathies, a multinational and multidisciplinary Workshop on 'DESMIN - Protein Surplus Myopathies' assembled 16 clinicians and scientists from 8 European countries on September 14-16, 2001 in Naarden, The Netherlands. 'Protein Surplus Myopathies' are marked by the accumulation of proteins within muscle fibers possibly owing to impaired non-lysosomal proteolysis some of the accruing proteins being mutant ones. Current state of knowledge on these structural congenital myopathies was reported and further lines of research were discussed. The major group comprises desmin-related myopathies, among them desminopathies marked by more than 10 mutations in the desmin gene, alpha-B-crystallinopathy marked by a mutation in the alpha-B-crystallin gene, and other myopathies with additionally known (linkage to 10q) or even gene loci. An example of these conditions discussed in this Workshop was 'hyaline body myopathy' marked by accumulation of granular material (myosin?).

Further research will target identification of new genes in respective families, unknown gene products in already mapped genes and further insight into the processes of protein accretion and protein degradation.

In spite of the rarity of these conditions, due to their usual clinical severity at the cardiac and skeletal muscle levels, a concerted investigation on their pathogenic mechanisms is justified, in order to improve their prevention and lead to therapeutic approaches.

The Consortium further decided on an application to the European Union to further investigate desmin-related myopathies and other very rare structural myopathies with individual members of the Consortium in charge of the different structural congenital myopathies.

An extended report of this meeting is published in Neuromuscular Disorders, Volume 12, Nos.7-8, October 2002

Prof. H.H. Goebel (Mainz, Germany)
Prof. M. Fardeau (Paris, France)