Lamins at a glance.

نویسندگان

Chin Yee Ho

Jan Lammerding

چکیده

Lamins, the major components of the nuclear lamina, have gained rapidly increasing interest over the past decade as lamin mutations were found to cause numerous devastating diseases. These laminopathies include Emery–Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy type 1A, limb-girdle muscular dystrophy type 1B, familial partial lipodystrophy (FPLD), Charcot–Marie–Tooth disease type 2, mandibuloacral dysplasia and the segmental premature ageing diseases Hutchinson– Gilford progeria syndrome (HGPS) and atypical Werner’s progeria. Altered lamin expression has also been reported in various cancers. The molecular mechanism underlying these diverse diseases remains unclear. As such, much effort has been devoted to characterizing the physical and biochemical properties of lamins and their role in cellular function. Here, we provide an overview of the diverse functions of nuclear lamins and how defects in these functions – caused by mutations or altered expression – can contribute to human disease.

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