title: Diseases of the nuclear envelope.
abstract: In the past decade, a wide range of fascinating monogenic diseases have been linked to mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. These diseases include dilated cardiomyopathy with variable muscular dystrophy, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome. Several diseases are also caused by mutations in genes encoding B-type lamins and proteins that associate with the nuclear lamina. Studies of these so-called laminopathies or nuclear envelopathies, some of which phenocopy common human disorders, are providing clues about functions of the nuclear envelope and insights into disease pathogenesis and human aging.
authors.affiliation: Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA. hjw14@columbia.edu
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Worman
authors.forename: Cecilia
authors.initials: C
authors.lastname: Ostlund
authors.forename: Yuexia
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism*; D004252:DNA Mutational Analysis; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D034904:Lamin Type A / Q000378:metabolism / Q000502:physiology*; D008954:Models, Biological; D008957:Models, Genetic; D009154:Mutation; D009685:Nuclear Envelope / Q000473:pathology*; D034881:Nuclear Lamina / Q000378:metabolism; D010641:Phenotype; D011371:Progeria / Q000235:genetics
chemical_list: D034904:Lamin Type A