CMT 2B1: Laminopathies: A wide spectrum of human diseases

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Exp Cell Res. 2007 Mar 30

Laminopathies: A wide spectrum of human diseases.

Worman HJ, Bonne G.

Department of Medicine and Department of Anatomy and Cell Biology,

College of Physicians and Surgeons, Columbia University, 630 West

168th Street, New York, NY 10032, USA.

Mutations in genes encoding the intermediate filament nuclear lamins

and associated proteins cause a wide spectrum of diseases sometimes

called " laminopathies. " Diseases caused by mutations in LMNA

encoding A-type lamins include autosomal dominant Emery-Dreifuss

muscular dystrophy and related myopathies, Dunnigan-type familial

partial lipodystrophy, Charcot-Marie-Tooth disease type 2B1 and

developmental and accelerated aging disorders.

Duplication in LMNB1 encoding lamin B1 causes autosomal dominant

leukodystrophy and mutations in LMNB2 encoding lamin B2 are

associated with acquired partial lipodystrophy. Disorders caused by

mutations in genes encoding lamin-associated integral inner nuclear

membrane proteins include X-linked Emery-Dreifuss muscular

dystrophy, sclerosing bone dysplasias, HEM/Greenberg skeletal

dysplasia and Pelger-Huet anomaly.

While mutations and clinical phenotypes of " laminopathies " have been

carefully described, data explaining pathogenic mechanisms are only

emerging. Future investigations will likely identify

new " laminopathies " and a combination of basic and clinical research

will lead to a better understanding of pathophysiology and the

development of therapies.