Diseases of the nuclear envelope.
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.
Worman
Howard J
HJ
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA. hjw14@columbia.edu
Ostlund
Cecilia
C
Wang
Yuexia
Y
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
D034904:Lamin Type A