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Molecular therapy for Laminopathies

17th national competition for scientific and technical research

Rare diseases

Senior Researcher : Ana María González García

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Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid


The Hutchinson-Gilford syndrome of premature ageing (HGPS or PROGERIA) is a rare disease but one with devastating effects, given that it has a high rate of mortality in the first and at the beginning of the second decade of life. Research into PROGERIA is considered to be especially important with regard to understanding the molecular mechanisms that lead to ageing, as well as constituting a challenge for the development of new therapies based on greater knowledge of cellular physiology. There are a series of unknown aspects: Why does PROGERINA cause PROGERIA? How are the lamin involved and how are their interactions between proteins and with chromatin regulated? Why do different mutations of the lamin A gene give rise to different pathologies? Our preliminary studies and those of other authors support the theory that PIK3CB regulates the nuclear lamin, as when analysing which proteins are associated with CB in "pull down", we identify lamin A; the inhibition and depletion of altered lamin, the morphology of the nucleus, the structure of the chromatin and differentiation of stem cells (our preliminary data). Lamin A as well as CB alters the structure of chromatin, in the case of lamin A by binding to complex chromatin remodellers. Finally, the treatment of PROGERIA (HGPS) with farnesylation inhibitors improved the defects of the nucleus and increased the expression of CB, suggesting that this gene regulates the nuclear lamin. These signs lead us to suggest that lamin A and CB may cooperate to preserve the nuclear envelope and its function in protecting the DNA, gene expression and maintaining the structure of the chromatin. This project explores the hypothesis that lamin A and CB co-regulate chromatin structure and cooperate in maintaining the nuclear envelope and gene expression.

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