Striated muscle laminopathies

Abstract

Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of functions described for lamin A/C has expanded. Lamin A/C is notably involved in the regulation of chromatin structure and gene transcription, and in the resistance of cells to mechanical stress. This review focuses on studies performed on knock-out and knock-in Lmna mouse models, which have led to decipher some of the lamin A/C functions in striated muscles and to the first preclinical trials of pharmaceutical therapies.

Keywords: Lamin A/C; Lmna mouse models; Muscular and cardiac dystrophy; Pharmacologic treatments.