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Human Molecular Genetics, 2001, Vol. 10, No. 19 2079-2087
© 2001 Oxford University Press

Defective satellite cells in congenital myotonic dystrophy

D. Furling, L. Coiffier, V. Mouly, J.P. Barbet1, J. Lacau St Guily2, K. Taneja3, G. Gourdon4, C. Junien4 and G.S. Butler-Browne+

CNRS UMR 7000, Faculté de Médecine Pitié-Salpêtrière, Université Paris 6, 105 boulevard de l’Hôpital, 75634 Paris Cedex 13, France, 1Département d’Anatomie Pathologique, Hôpital St Vincent de Paul, 74 avenue Denfert-Rochereau, 75014 Paris, France, 2Service d’Oto-Rhino-Laryngologie et Chirurgie de la Face et du Cou, Hôpital Tenon, 4 rue de la Chine, 75020 Paris, France, 3Boston Probes Inc., Bedford, MA, USA and 4INSERM UR383, Hôpital Necker-Enfants Malades, 149–161 rue de Sèvres, 75743 Paris, France

In this study we have developed an in vitro cell culture system which displays the majority of the defects previously described for congenital myotonic dystrophy (CDM) muscle in vivo. Human satellite cells were isolated from the quadriceps muscles of three CDM fetuses with different clinical severity. By Southern blot analysis all three cultures were found to have approximately 2300 CTG repeats. This CTG expansion was found to progressively increase in size during the proliferative life span, confirming an instability of this triplet in skeletal muscle cells. The CDM myoblasts and myotubes also showed abnormal retention of mutant RNA in nuclear foci, as well as modifications in their myogenic program. The proliferative capacity of the CDM myoblasts was reduced and a delay in fusion, differentiation and maturation was observed in the CDM cultures compared with unaffected myoblast cultures. The clinical severity and delayed maturation observed in the CDM fetuses were closely reflected by the phenotypic modifications observed in vitro. Since the culture conditions were the same, this suggests that the defects we have described are intrinsic to the program expressed by the myoblasts in the absence of any trophic factors. Altogether, our results demonstrate that satellite cells are defective in CDM and are probably implicated in the delay in maturation and muscle atrophy that has been described previously in CDM fetuses.

+ To whom correspondence should be addressed. Tel: +33 1 40 77 98 38; Fax: +33 1 53 60 08 02; Email: butlerb@ext.jussieu.fr The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors


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