Type 2B1 lamins mutations research

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Abstract from Muscle Nerve 2003 Apr;27(4):393-406

Nuclear envelope proteins and neuromuscular diseases.

Ostlund C, Worman HJ.

Department of Medicine, College of Physicians and Surgeons, Columbia

University, 630 West 168th Street, Tenth Floor, New York, New York

10032, USA.

Several neuromuscular diseases are caused by mutations in emerin and

A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular

dystrophy is caused by mutations in emerin (X-linked) or A-type lamins

(autosomal dominant). Mutations in A-type lamins also cause limb-girdle

muscular dystrophy type 1B, dilated cardiomyopathy with conduction

defect, and Charcot-Marie-Tooth disorder type 2B1. They

also cause partial lipodystrophy syndromes. The functions of emerin and

A-type lamins and the mechanisms of how mutations in these proteins

cause tissue-specific diseases are not well understood. The mutated

proteins may cause structural damage to cells but may also affect

processes such as gene regulation. This review gives an overview of this

topic and describes recent advances in identification of disease-causing

mutations, studies of cells and tissues from subjects with these

diseases, and animal and cell culture models.