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Home » Proyectos de investigación » Synpatic function of neurexins in mental disorders: Alzheimer’s disease.
Título: Synpatic function of neurexins in mental disorders: Alzheimer’s disease.
IP: Dr. Francisco Gómez Scholl
Resumen del proyecto: Brain function requires the formation and maintenance of a complex synaptic circuit. Alterations in this circuit are associated with mental disorders. It has been proposed that synaptic defects are present in the early stages of Alzheimer’s disease and that they occur before neurodegeneration. Thus, the identification of the mechanisms associated with synaptic deficits may contribute to the understanding of the molecular basis of Alzheimer’s disease. Neurexins are a family of membrane proteins that work as trans-synaptic receptors. The binding of presynaptic neurexins with their postsynaptic receptors, such as neuroligins, has a role in synapse formation/maintenance. The identification of mutations in the neurexin and neuroligin genes in autism and mental retardation suggests that the dysfunction of this synaptic pathway plays a role in the etiology of mental disorders. The work in our group has shown that neurexins are proteolytic substrates of presenilins (PS) (Saura et al., PLoS One 2011). Mutations in PS are the main cause of familial forms of Alzheimer’s disease (FAD). We have described that mutations identified in FAD patients are not able to cleave neurexins. These and other results suggest that defects in the proteolytic cleavage of neurexins by PS could be associated with the defects in synaptic plasticity and memory observed in Alzheimer’s disease. Furthermore, we have recently reported the genetic association of NRXN3 and Alzheimer’s disease (Martinez-Mir et al., J Alz Dis 2013). The main goal of this project is to study the neurexin pathway in patients with Alzheimer’s disease using a next-generation sequencing approach together with the genetic and functional analysis of the identified variants.
Entidad financiadora: Junta de Andalucía
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University of Salamanca
Biobanks Network
Institute Carlos III
Junta de Castilla y León
European Union
Banco Nacional de ADN
Edificio Multiusos I+D+i (Universidad de Salamanca)
C/ Espejo s/n. 37007 Salamanca
Teléfono de contacto: 923294500. Ext. 5473