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核纤层蛋白病——一个基因,多种疾病 被引量：5

Laminopathies —one gene, multiple diseases
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摘要 Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms. Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.
作者 宋书娟 章远志 Nanbert ZHONG
机构地区 北京大学医学部医学遗传学系
出处 《北京大学学报（医学版）》 CAS CSCD 北大核心 2005年第1期96-99,共4页 Journal of Peking University:Health Sciences
关键词 核纤层蛋白质类 遗传性疾病 先天性 基因 LMNA 动物模型 Lamins Genetic disease,inborn Gene, LMNA Disease model,animal
分类号 R596 [医药卫生—内科学]
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参考文献46

  • 1A1-Shali KZ, Hegele RA. Laminopathies and Atherosclerosis [J].Arterioscler Thromb Vasc Biol, 2004, 24 : 1591 - 1595.
  • 2Navarro CL, De Sandre-Giovannoli A, Bernard R, et al. Lamin A and ZMPSTE24 ( FACE-1 ) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy [ J ].Hum Mol Genet. 2004.13:2493 -2503.
  • 3Bonne GD, Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosemal dominant Emery-Dreifuss muscular dystrophv[J]. Nature Genet. 1999,21:285 -288.
  • 4Raffaele BM, Ricci E, Galluzzi G, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy [ J ]. Am J Hum Genet, 2000, 66 :1407 - 1412.
  • 5Goizet C, Yaou RB, Demay L, et al. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia [J]. J Med Genet,2004.41,1 -5.
  • 6De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins,cause autosomal recessive axonal neuropathy in human ( Charcot-Marie-Tooth disorder type 2) and mouse [ J ]. Am J Hum Genet, 2002,70 : 726 - 736.
  • 7Muchir A, Bonne G, van der Kooi A J, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) [J]. Hum Molec Genet. 2000. 9:1453-1459.
  • 8Taylor MR, Fain PR, Sinagra G, et al. Familial Dilated Cardiomyopathy Registry Research Group. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations[J]. J Am Coll Cardiol, 2003,41,771 -780.
  • 9Brown CA, Lanning RW, McKinney KQ, et al. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy [J]. Am J Med Genet. 2001.102:359 - 367.
  • 10Sullivan T, Escalante-Alcalde D, Bhatt H, et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy[J]. J Cell Biol. 1999.147:913 - 919.

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北京大学学报（医学版）
2005年 第1期

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