Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B |
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| Authors: | Young-Eun Park Yukiko K Hayashi Kanako Goto Hirofumi Komaki Yuichi Hayashi Takashi Inuzuka Satoru Noguchi Ikuya Nonaka Ichizo Nishino |
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| Institution: | 1. Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain;2. Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain;3. Institute of Neuropathology, Department of Pathology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain;4. Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain;5. Department of Neurology, Hospital de Viladecans, Barcelona, Spain;6. Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Spain;7. Pediatric Department, Hospital Universitario Infanta Sofía, TRADESMA IdiPaz-UAM, Madrid, Spain;8. Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain;9. Radiology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain;10. Neuromuscular Disorders Unit, Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain;11. Department of Neurology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain;12. Neurosciences Area, Biodonostia Institute, Donostia-San Sebastián, Spain;13. Cardiology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain;14. Genetic Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain |
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| Abstract: | Autosomal forms of Emery-Dreifuss muscular dystrophy (AD-/AR-EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are caused by mutations in the gene encoding A-type lamins (LMNA). A-type lamins are major components of nuclear lamina and known to have important roles in maintaining nuclear integrity. LMNA mutations are also suggested to cause reduced myogenic differentiation potentials, implying that satellite cell nuclei in AD-EDMD/LGMD1B are likewise affected. We examined nuclear changes of skeletal muscles including satellite cells from four patients with AD-EDMD/LGMD1B by light and electron microscopy. We found that 92.5 ± 5.0% of myonuclei had structural abnormalities, including shape irregularity and/or chromatin disorganization, and the presence of peri-/intranuclear vacuoles. Chromatin changes were also observed in 50% of the satellite cell nuclei. Increased number of Pax7-positive nuclei, but fewer number of MyoD-positive nuclei were seen on immunohistochemical analyses, suggesting functional alteration of satellite cells in addition to the nuclear morphological changes in AD-EDMD/LGMD1B. |
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