Laminopathies: a new look at the problem
Laminopathies are a heterogeneous group of diseases associated with mutations in A-type lamins that together with B-type lamins form the nuclear lamina: a protein network in the base of nuclear membrane. A-type lamins are encoded by the LMNA gene; and there were described more than 400 mutations associated with more than 16 phenotypes. The majority of mutations affect striated muscle to cause Emery-Dreifuss muscular dystrophy (EDMD) or dilated cardiomyopathy (DCM), while others result in lipodystrophy, neuropathy or premature ageing syndromes. Clear genotype- phenotype correlations are not established yet, the pathogenic mechanisms are poorly understood, and therapies are still at the stage of research.