Author:
Wada Eiji,Matsumoto Kohei,Susumu Nao,Kato Megumi,Hayashi Yukiko K.
Abstract
AbstractEmery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities. To elucidate the pathophysiological mechanisms underlying striated muscle involvement in EDMD, we previously established a murine model with mutations in Emd and Lmna (Emd−/−/LmnaH222P/H222P; EH), and reported exacerbated skeletal muscle phenotypes and no notable cardiac phenotypes at 12 weeks of age. We predicted that lack of emerin in LmnaH222P/H222P mice causes an earlier onset and more pronounced cardiac dysfunction at later stages. In this study, cardiac abnormalities of EDMD mice were compared at 18 and 30 weeks of age. Contrary to our expectations, physiological and histological analyses indicated that emerin deficiency causes no prominent differences of cardiac involvement in LmnaH222P/H222P mice. These results suggest that emerin does not contribute to cardiomyopathy progression in LmnaH222P/H222P mice.
Funder
Grants-in-Aid for Scientific Research (B) from the Japanese Ministry of Education, Culture, Sports, Science and Technology
Acceleration Program for Intractable Disease Research Utilizing Disease-specific iPS cells
Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development
Intramural Research Grant for Neurological and Psychiatric Disorders of NCNP
Follow-up Grant 2022 from Tokyo Medical University
Follow-up Grant 2023 from Tokyo Medical University
Publisher
Springer Science and Business Media LLC