Could these structures be involved in the development of certain neuromuscular diseases?
The integrity of this transmembrane structure is critical for nuclear movement: we have demonstrated that the inhibition of any of these three proteins inhibits nuclear movement. < In red, the TAN lines on the surface of the nucleus can be seen in the photo.
Moreover, it was shown that mutations in different members of this structure were found in Emery-Dreyfuss muscular dystrophy, in laminopathies or in some cardiomyopathies. But the link between the nuclear position and the disease has not yet been elucidated. However, it is very common to see nuclei at the centre of muscle fibres in patients, whereas the nuclei are normally at the periphery. What are the next steps?
These results were obtained in fibroblasts. We will thus start by analyzing muscle cells to see whether this structure exists and if it has the same behaviour, first in mouse cells then in healthy and dystrophic human cells. In parallel, we are investigating whether mutations in nuclear envelope proteins isolated by screening could have a role in muscular dystrophies.
Finally, in the even longer term, we would like to establish collaborations with other teams of the Institute of Myology (Gisèle Bonne, Luis Garcia, among others) to try and repair mutations, to ultimately improve the lives of patients. September 2010
Interview by Anne Berthomier, translation by Racquel N. Cooper
*G. W. G. Luxton (1), E. R. Gomes (1), E. S. Folker, E. Vintinner, G. G. Gundersen,
Linear Arrays of Nuclear Envelope Proteins Harness Retrograde Actin Flow for Nuclear Movement,
Science 329, 956 (2010).