Synaptic Dysfunction in Sanfilippo Type C

January 1, 2016

Cure Sanfilippo Foundation has awarded a grant to Alexey Pshezhetsky, PhD, of St. Justine University Hospital (Montreal, CA) to explore the synaptic dysfunctions in Sanfilippo Syndrome Type C.

Project Summary: The study’s major objective is to understand the pathophysiological mechanism underlying cognitive decline and behavioral abnormalities in the genetic metabolic disease Mucopolysaccharidosis type III (MPS III, Sanfilippo disease) and to develop new strategies for its therapy.

The hypothesis is that early decline in CNS functions in MPS III is caused not by neuronal death, but rather by breakdown in neurotransmission due to synaptic defects.

Confirmation of this hypothesis, which will be tested by studying synaptic function in gene-targeted mouse model of MPS IIIC, would mean that MPS III patients could benefit from therapeutic approaches based on restoration of the synaptic function to a point sufficient to reverse disease symptoms.

Date: January to December 2016

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