Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E

被引:174
作者
Durbeej, M
Cohn, RD
Hrstka, RF
Moore, SA
Allamand, V
Davidson, BL
Williamson, RA
Campbell, KP [1 ]
机构
[1] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Physiol & Biophys, Iowa City, IA 52242 USA
[2] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Neurol, Iowa City, IA 52242 USA
[3] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Obstet & Gynecol, Iowa City, IA 52242 USA
[4] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Pathol, Iowa City, IA 52242 USA
[5] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Internal Med, Iowa City, IA 52242 USA
关键词
D O I
10.1016/S1097-2765(00)80410-4
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caused by mutations in the beta-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscle. beta-sarcoglycan-deficient (Sgcb-null) mice developed severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. The sarcoglycan-sarcospan and dystroglycan complexes were disrupted in skeletal, cardiac, and smooth muscle membranes. epsilon-sarcoglycan was also reduced in membrane preparations of striated and smooth muscle. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle resulted in vascular irregularities in heart, diaphragm, and kidneys. Further biochemical characterization suggested the presence of a distinct epsilon-sarcoglycan complex in skeletal muscle that was disrupted in Sgcb-null mice. Thus, perturbation of vascular function together with disruption of the epsilon-sarcoglycan-containing complex represents a novel mechanism in the pathogenesis of LGMD 2E.
引用
收藏
页码:141 / 151
页数:11
相关论文
共 45 条
[1]   Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha 2-chain [J].
Allamand, V ;
Sunada, Y ;
Salih, MAM ;
Straub, V ;
Ozo, CO ;
AlTuraiki, MHS ;
Akbar, M ;
Kolo, T ;
Colognato, H ;
Zhang, X ;
Sorokin, LM ;
Yurchenco, PD ;
Tryggvason, K ;
Campbell, KP .
HUMAN MOLECULAR GENETICS, 1997, 6 (05) :747-752
[2]   Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in β-sarcoglycan-deficient mice [J].
Araishi, K ;
Sasaoka, T ;
Imamura, M ;
Noguchi, S ;
Hama, H ;
Wakabayashi, E ;
Yoshida, M ;
Hori, T ;
Ozawa, E .
HUMAN MOLECULAR GENETICS, 1999, 8 (09) :1589-1598
[3]  
BAHRON RJ, 1988, NEW ENGL J MED, V319, P15
[4]  
BARRESI R, 1999, IN PRESS J MED GEN
[5]   LGMD 2E in Tunisia is caused by a homozygous missense mutation in β-sarcoglycan exon 3 [J].
Bönnemann, CG ;
Wong, J ;
Ben Hamida, C ;
Ben Hamida, M ;
Hentati, F ;
Kunkel, LM .
NEUROMUSCULAR DISORDERS, 1998, 8 (3-4) :193-197
[6]   Genomic screening for beta-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) [J].
Bonnemann, CG ;
PassosBueno, MR ;
McNally, EM ;
Vainzof, M ;
Moreira, ED ;
Marie, SK ;
Pavanello, RCM ;
Noguchi, S ;
Ozawa, E ;
Zatz, M ;
Kunkel, LM .
HUMAN MOLECULAR GENETICS, 1996, 5 (12) :1953-1961
[7]   BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX [J].
BONNEMANN, CG ;
MODI, R ;
NOGUCHI, S ;
MIZUNO, Y ;
YOSHIDA, M ;
GUSSONI, E ;
MCNALLY, EM ;
DUGGAN, DJ ;
ANGELINI, C ;
HOFFMAN, EP ;
OZAWA, E ;
KUNKEL, LM .
NATURE GENETICS, 1995, 11 (03) :266-273
[8]   Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy [J].
Coral-Vazquez, R ;
Cohn, RD ;
Moore, SA ;
Hill, JA ;
Weiss, RM ;
Davisson, RL ;
Straub, V ;
Barresi, R ;
Bansal, D ;
Hrstka, RF ;
Williamson, R ;
Campbell, KP .
CELL, 1999, 98 (04) :465-474
[9]   Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex [J].
Crosbie, RH ;
Lebakken, CS ;
Holt, KH ;
Venzke, DP ;
Straub, V ;
Lee, JC ;
Grady, RM ;
Chamberlain, JS ;
Sanes, JR ;
Campbell, KP .
JOURNAL OF CELL BIOLOGY, 1999, 145 (01) :153-165
[10]  
CROSBIE RH, 1998, FEBS LETT, V427, P270