METHOD FOR THE PREDICTION OF THE SEVERITY OF NUCLEAR ENVELOPE-RELATED DISEASES.

摘要

Nuclear envelopathies are diseases caused by a malfunction of nuclear envelope associated proteins or lamins. Nuclear envelopathies are heterogeneous group of diseases, ranging from muscle and lipid dystrophies to progeria. Genetic screening does not warrant a proper assessment of the impact of the mutation(s) due to a highly variable penetrance between affected individuals. Here we present a novel method to assess and predict clinical outcome by screening the loss of nucleo-cytoplasmic compartmentalization in patient cells. Furthermore, this method allows distinguishing between different types of laminopathies.