title: Nuclear envelope proteins and associated diseases.
abstract: There is a growing body of evidence in favour of the presence of human diseases caused by mutations in genes that encode the nuclear envelope proteins emerin and lamin A/C (lamin A and C are alternatively spliced variants of the same gene). Emerin deficiency results in X-linked Emery-Dreifuss muscular dystrophy (EDMD). Lamin A/C mutations cause the autosomal-dominant form of EDMD, limb-girdle muscular dystrophy with atrioventricular conduction disturbances (type 1B), hypertrophic cardiomyopathy and Dunnigan-type familial partial lipodystrophy. In the targeted mouse model of lamin A gene deficiency, loss of lamin A/C is associated with mislocalization of emerin. Thus, one plausible pathomechanism for EDMD, limb-girdle muscular dystrophy type 1B, hypertrophic cardiomyopathy and familial partial lipodystrophy is the presence of specific abnormalities of the nuclear envelope. Therefore, a group of markedly heterogeneous disorders can be classified as 'nuclear envelopathies'. The present review summarizes recent findings on nuclear envelope proteins and diseases.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Nagano
authors.forename: K
authors.initials: K
authors.lastname: Arahata
mesh_terms: D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D004195:Disease Models, Animal; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics; D009154:Mutation; D009468:Neuromuscular Diseases / Q000235:genetics*; D009685:Nuclear Envelope / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins