Journal
NEUROMUSCULAR DISORDERS
Volume 20, Issue 5, Pages 319-325Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.03.006
Keywords
CTG repeat; Transgenic mouse; DMPK gene; Myotonic dystrophy
Categories
Funding
- Association Francaise contre les Myopathies (AFM)
- ANR
- EU network-Myoage
- Universite Pierre et Marie Curie-Paris6 (UPMC)
- INSERM
- CNRS
- AFM [13813]
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Myotonic dystrophy type 1 (DM1) is a neuromuscular disease caused by the expansion of a CTG repeat in the DMPK gene and characterised by progressive skeletal muscle weakness and wasting. To investigate the effects of the CTG expansion on the physiological function of the skeletal muscles, we have used a transgenic mouse model carrying the human DM1 region with 550 expanded CTG repeats. Maximal force is reduced in the skeletal muscles of 10-month-old but not in 3-month-old DM1 mice when compared to age-matched non-transgenic littermates. The progressive weakness observed in the DM1 mice is directly related to the reduced muscle mass and muscle fibre size. A significant increase in trypsin-like proteasome activity and Fbxo32 expression is also measured in the DM1 muscles indicating that an atrophic process mediated by the ubiquitin-proteasome pathway may contribute to the progressive muscle wasting and weakness in the DM1 mice. (C) 2010 Elsevier B.V. All rights reserved.
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