THE MULTIPLE FACES OF LAMINS IN AGING AND DISEASE • 6 - 9 JANUARY 2009


ACRONYM

EURO-Laminopathies-Workshop

PROJECT SUMMARY

This workshop brought together scientists from diverse research areas, working on lamins and laminopathies – with a particular focus on newly emerging aspects in lamin function (e.g. stem cell, signaling). It also intended to foster interdisciplinary interactions between basic scientists and clinical researchers as well as patient organizations.

Lamins are nucleus specific intermediate filament proteins forming a major structural network at the nuclear envelope of multicellular organisms. They are architectural proteins defining nuclear shape and protecting the nucleus against mechanical stress.

Intriguing new findings have increasingly shown that lamin functions go far beyond pure mechanical roles and include higher order chromatin organisation, gene expression control, and the regulation of various signaling pathways.

Even more exciting, mutations in the LMNA gene that encodes one of the major lamin proteins, lamin A and its splice variant lamin C, have been found to cause a heterogeneous group of diseases, termed laminopathies.

The phenotype of these diseases ranges from muscular dystrophy, cardiomyopathy and lipodystrophy to systemic diseases, like the premature aging syndrome Hutchinson Gilford Progeria, affecting many tissues. In addition, numerous lamin binding proteins were identified in recent years that are also linked to laminopathy-type diseases, suggesting that lamin complexes with their associated-proteins have a multitude of different functions, whose impairment by disease causing mutations can affect many different tissues.

While laminopathies are rare diseases, there is increasing evidence that some of the processes affected in laminopathies are also involved in prominent diseases, such as diabetes, heart failures, and age related pathologies. Progeria-causing abnormal forms of lamin A have also been found in the elderly, indicating an exciting link between molecular age-related events and lamin dysfunction.

FURTHER DETAILS

Applicant Medizinische Universität Wien, Austria
Coordinator Prof. Roland Foisner, Department of Medical Biochemistry
Number of partners -
PUNKT's responsibilities Creation of the proposal's concept, composition of the expository, organisational, administrative and financial considerations of the project, workshop-coordination, -organisation, -communication with all participating institutions and partners as well as the final reporting to EMBO.
Status Funded and completed in 2009
Website http://cwp.embo.org/w09-08/index.html