EURO-Laminopathies-Workshop

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.

AntragsstellerIn Medizinische Universität Wien, Österreich
KoordinatorIn Prof. Roland Foisner, Department für Medizinische Biochemie
Anzahl der PartnerInnen -
PUNKT's responsibilities Erstellung des Antragskonzeptes, Verfassen der argumentativen, organisatorischen, administrativen und budgetären Aspekte des Projektes, Projektkoordination, -organisation und -kommunikation sowie reporting gegenüber EMBO
Status Gefördert und 2009 abgeschlossen
Website http://cwp.embo.org/w09-08/index.html