Community Research and Development Information Service - CORDIS



Project ID: 18690
Country: Austria

Understanding the molecular basis of laminopathies

European scientists generated new insight into the molecular basis of laminopathies. Efforts opened the way to a better understanding of the molecular mechanisms underlying this group of rare genetic disorders.
Understanding the molecular basis of laminopathies
Lamins are a family of proteins that serve to maintain the structure and function of the cell nucleus. Mutations in the genes encoding lamins jeopardise the stability of the cell nucleus leading to a group of disorders known as laminopathies. Laminopathies such as muscular dystrophy manifest after birth and often lead to early death. Development of therapeutic approaches has been hampered by the lack of understanding of the molecular mechanisms causing the disorders.

With this in mind, the EU-funded project 'Nuclear envelope-linked rare human diseases: From molecular pathophysiology towards clinical applications' (Euro-Laminopathies) studied lamin function in normal and diseased cells. Using patient cells and an extensive array of animal models, project partners investigated the role of lamin mutations in protein structure and proper assembly of the cell nucleus. Additionally, they examined if mutated lamins affected chromatin organisation and gene expression, leading to altered cell differentiation ability and impaired tissue homeostasis.

The project also extended current knowledge at the clinical level. Analysis of a plethora of patient clinical and genetic information led to the identification of new clinical subgroups carrying certain mutations and description of further complications linked to these disorders.

Project outcomes pave the way for development of novel drug targets and therapeutic remedies. This is expected to improve treatment efficiency and disease outcome among patients suffering from laminopathies.

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