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Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.
Neuromuscul Disord. 2009 Jan; 19(1):29-36.ND

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.

Authors+Show Affiliations

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, 187-8502 Tokyo, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19070492

Citation

Park, Young-Eun, et al. "Nuclear Changes in Skeletal Muscle Extend to Satellite Cells in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy/limb-girdle Muscular Dystrophy 1B." Neuromuscular Disorders : NMD, vol. 19, no. 1, 2009, pp. 29-36.
Park YE, Hayashi YK, Goto K, et al. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Neuromuscul Disord. 2009;19(1):29-36.
Park, Y. E., Hayashi, Y. K., Goto, K., Komaki, H., Hayashi, Y., Inuzuka, T., Noguchi, S., Nonaka, I., & Nishino, I. (2009). Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Neuromuscular Disorders : NMD, 19(1), 29-36. https://doi.org/10.1016/j.nmd.2008.09.018
Park YE, et al. Nuclear Changes in Skeletal Muscle Extend to Satellite Cells in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy/limb-girdle Muscular Dystrophy 1B. Neuromuscul Disord. 2009;19(1):29-36. PubMed PMID: 19070492.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. AU - Park,Young-Eun, AU - Hayashi,Yukiko K, AU - Goto,Kanako, AU - Komaki,Hirofumi, AU - Hayashi,Yuichi, AU - Inuzuka,Takashi, AU - Noguchi,Satoru, AU - Nonaka,Ikuya, AU - Nishino,Ichizo, Y1 - 2008/12/12/ PY - 2008/05/22/received PY - 2008/09/24/revised PY - 2008/09/26/accepted PY - 2008/12/17/entrez PY - 2008/12/17/pubmed PY - 2009/5/21/medline SP - 29 EP - 36 JF - Neuromuscular disorders : NMD JO - Neuromuscul Disord VL - 19 IS - 1 N2 - 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. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/19070492/Nuclear_changes_in_skeletal_muscle_extend_to_satellite_cells_in_autosomal_dominant_Emery_Dreifuss_muscular_dystrophy/limb_girdle_muscular_dystrophy_1B_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(08)00660-3 DB - PRIME DP - Unbound Medicine ER -