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Xavière Lornage

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Articles

MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1

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By Vanessa Todorow, Shinichiro Hayashi, Fiorella Carla Grandi, Jeanne Lainé, Michel Ney, Mégane Lemaitre, Maria Kondili, Piera Smeriglio, Hanseul Oh, Nobuyuki Eura, Yoshihiko Saito, Satoru Noguchi, Benedikt Schoser, Ichizo Nishino, Peter Meinke, Frédérique Rau, Xavière Lornage, Zoé Clerc, Corentin Rouxel, Mie Kato, Denis Furling
| Nature Verified
Abstract Myotonic dystrophy type 1 is caused by the expression of expanded CTG repeats in the DMPK gene and the resulting loss of function of MBNL protein. Affected skeletal muscle displays abundant centrally located nuclei despite limited immune-cell–associated fibre necrosis, complicating interpretation of muscle damage and remodelling mechanisms. Here we show that muscle stem cells are activated and fuse with existing muscle fibres in myotonic dystrophy type 1.
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