Laminopathies comprise a group of inherited diseases with variable clinical phenotypes. They are caused by mutations in the lamin complexes (LMNA) of the nuclear envelope. An EU-funded study, EURO-Laminopathies, sought to identify the molecular mechanisms underlying these mutations in order to understand how their effect on lamins might reduce a cell's stress resistance. The study examined the molecular properties of lamin complexes and how these properties impact both disease and normal ageing. Led by Professor Roland Foisner of the Medical University of Vienna in Austria, the researchers found that lamins are responsible for producing new tissue-specific cells in adult organisms, and thereby play a key role in the maintenance and regeneration of high-turnover tissues such as skin and muscle. The findings have major implications for inherited disorders such as muscular dystrophy, cardiomyopathy, diabetes and premature aging. The researchers studied cells in culture and in mice and confirmed that lamin A is essential for the regulation of the cell cycle. They observed that lamin A was responsible for regulating the proliferation and differentiation of progenitor cells, which are similar to stem cells, in highly regenerative tissues such as skin and muscle.

Références : Nat Cell Biol. 2008 Nov;10(11):1341-8. Epub 2008 Oct 12.