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Diseases of the nuclear envelope Worman HJ; Ostlund C; Wang YCold Spring Harb Perspect Biol 2010[Feb]; 2 (2): a000760In 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.|*Mutation[MESH]|Animals[MESH]|Cell Nucleus/*metabolism[MESH]|DNA Mutational Analysis[MESH]|Genetic Diseases, Inborn/genetics[MESH]|Humans[MESH]|Lamin Type A/metabolism/*physiology[MESH]|Models, Biological[MESH]|Models, Genetic[MESH]|Nuclear Envelope/*pathology[MESH]|Nuclear Lamina/metabolism[MESH]|Phenotype[MESH]|Progeria/genetics[MESH] |
