(mentions CMT 2) Diseases of the nuclear envelope

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Cold Spring Harb Perspect Biol. 2010 Feb

Diseases of the nuclear envelope.

Worman HJ, Ostlund C, Wang Y.

Department of Medicine and Department of Pathology and Cell Biology, College of

Physicians and Surgeons, Columbia University, New York, New York 10032.

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.