Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

被引:40
|
作者
McMillan, J. R. [1 ]
Akiyama, M.
Rouan, F.
Mellerio, J. E.
Lane, E. B.
Leigh, I. M.
Owaribe, K.
Wiche, G.
Fujii, N.
Uitto, J.
Eady, R. A. J.
Shimizu, H.
机构
[1] Hokkaido Univ, Grad Sch Med, Dept Dermatol, Kita Ku, Sapporo, Hokkaido 0608638, Japan
[2] Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA
[3] Kings Coll London, St Thomas Hosp, St Johns Inst Dermatol, London WC2R 2LS, England
[4] Univ Dundee, Dept Anat & Physiol, Dept Cell Struct, Dundee DD1 4HN, Scotland
[5] Queen Mary Univ London, St Bartholomews & Royal London Sch Med & Dent, Ctr Cutaneous Res, London E1 4NS, England
[6] Nagoya Univ, Nagoya, Aichi, Japan
[7] Univ Vienna, Dept Mol Cell Biol, Vienna, Austria
[8] Natl Omuta Hosp, Dept Neurol, Fukuoka, Japan
基金
英国惠康基金;
关键词
plectin; intermediate filament; muscle; Z-line; epidermolysis bullosa;
D O I
10.1002/mus.20655
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD, MIM 226670) is caused by plectin defects. We performed mutational analysis and immunohistochemistry using EBS-MD (n = 3 cases) and control skeletal muscle to determine pathogenesis. Mutational analysis revealed a novel homozygous plectin-exon32 rod domain mutation (R2465X). All plectin/HD1-121 antibodies stained the control skeletal muscle membrane. However, plectin antibodies stained the cytoplasm of type II control muscle fibers (as confirmed by ATPase staining), whereas HD1-121 stained the cytoplasm of type I fibers. EBS-MD samples lacked membrane (n = 3) but retained cytoplasmic HD1-121 (n = 1) and plectin staining in type II fibers (n = 3). Ultrastructurally, EBS-MD demonstrated widening and vacuolization adjacent to the membrane and disorganization of Z-lines (n = 2 of 3) compared to controls (n = 5). Control muscle immunogold labeling colocalized plectin and desmin to filamentous bridges between Z-lines and the membrane that were disrupted in EBS-MD muscle. We conclude that fiber-specific plectin expression is associated with the desmin-cytoskeleton, Z-lines, and crucially myocyte membrane linkage, analogous to hemidesmosomes in skin.
引用
收藏
页码:24 / 35
页数:12
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