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Projects. Life and Earth Sciences

The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications

Lead Researcher:
Esther Pérez-Navarro

Research Centre:
Universidad de Barcelona.

Abstract: 

Esther Pérez-NavarroAlterations in the lamin (type A and B), the main fibroid component of the nuclear laminin eukaryote cells, give rise to a series of diseases known as laminopathies. One of these, which is caused by a genetic duplication that produces an increase in the levels of B1 lamin, involves motor and cognitive deficits together with demyelation of the central nervous system. Additionally, alterations in the nuclear laminin Parkinson's disease suggest that they participate in neurodegenerative processes. We recently described how levels of B lamin increase in the brain of an animal model as well as in Huntington's disease (HD) patients. This disease, which is caused by a mutation in the Huntington gene, is characterised by alterations in motor coordination and in cognitive function. There is currently no treatment able to prevent or slow the neuronal dysfunction that occurs in this neurodegenerative disease. Our hypothesis is that alterations in the nuclear lamin caused by changes in the levels of the laminas may participate in the pathology of HD, so that therefore pharmacological modulation of these levels could be a good therapeutic strategy. Moreover, the possible detection of alterations in the levels of laminas at a peripheral level could be a good biomarker of the neurodegenerative process as well as the therapeutic efficacy of drugs used to modulate the same. To test our hypothesis, we will undertake in vivo and in vitro studies, using animal models and post-mortem cerebral tissue from HD patients. In collaboration with a group of neurologists from the Hospital de la Santa Creu i Sant Pau, Barcelona, we will analyse lamin alterations in blood plasma and lymphocytes from carriers of the mutation as well as patients at different stages of the disease.



Esther Pérez-Navarro

Doctor in Biology, University of Barcelona (1996). She has undertaken several visits, in the Stockholm Karolinska Institute in the Medical Biochemistry and Biophysics department. Tenured professor in the Department of Cellular Biology, Immunology and Neuroscience, Faculty of Medicine, University of Barcelona, since 2003. Researcher in IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer) and CIBERNED (centro de investigación en red sobre enfermedades neurodegenerativas). From 2001 she has been in charge of a line of research the purpose of which is to study molecular mechanisms which are altered in Huntington's disease, with the aim of identifying new therapeutic targets. The results of this have given rise to more than 50 scientific publications in prestigious international journals such as J. Neurosci., Cell Death Differ. and Hum. Mol. Genet. To date she has directed 5 doctoral theses, as well as several studies at the end of master's degrees and degrees. She has been the main researcher in several competitive projects (Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III) and in collaboration with pharmaceutical companies (Palobiofarma SL). In her teaching, she is the Interuniversity Neurosciences coordinator (University of Barcelona, Pompeu Fabra, Rovira i Virgili y Lleida), coordinator of the subject of Human histology in medical degrees and also takes part in the teaching of several subjects in the Master's degree and degree in Medicine.


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