Down syndrome:unravelling the genetic players of a disorder of neural plasticity

• Autorzy: Dierssen M.
• Języki publikacji: EN

Abstrakty

EN

Intellectual disabilities (ID) are chronic diseases that place a disproportionate burden on medical and social care, and educational systems, and rates of ID are on the increase. People with ID are vulnerable and many need lifelong assistance in most aspects of daily life. Cognitive deficits are a prominent feature and severely compromise their quality of life. The reduction in health inequalities and the improvement of health for people with intellectual disability has become a priority worldwide. In spite of the broad spectrum of genetic and environmental aetiologies, the disruption of neural plasticity can be viewed as a sign of cognitive impairment across ID. Our observations that brain plasticity is effective in the recovery from some of the cognitive deficits associated with ID open a window of opportunity for a novel therapeutic concept: therapies that improves and stabilizes physiological (experiencedependent) plasticity in genetic ID syndromes. Thus, targeting core molecular substrates of neuroplasticity with specific drugs, in combination with non-pharmacological interventions. We have identified an extremely powerful target for drug development, DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a serine/threonine kinase that plays key roles in cell proliferation, survival and neural plasticity. This work was supported by grants from Fondation Jérôme Lejeune (Paris, France), Instituto de Salud Carlos III FEDER, (PI11/00744), MINECO (SAF2013-49129-C2-1-R), EU (Era Net Neuron PCIN2013-060), DIUE de la Generalitat de Catalunya (SGR 2014/464 SGR 2014/1125)

• Wydawca: -
• Czasopismo: Acta Neurobiologiae Experimentalis
• Rocznik: 2015
• Tom: 75
• Numer: Supl.
• Opis fizyczny: p.S23

Twórcy

autor

Dierssen M.

• Center for Genomic Regulation (CRG) and CIBERER, Barcelona, Spain