Research projects

Alterations 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.