Alzheimer's disease and Down Syndrome: endocytic anomalies

Melanie Pritchard, PhD
Monash University (Clayton Victoria, Australia)
Year Awarded:
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April 1, 2004 to March 31, 2006
Alzheimer's Disease
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Alzheimer's disease and Down Syndrome: endocytic anomalies



All individuals with Down's syndrome (DS) develop AD-like neurological pathology. Dr. Pritchard's efforts to identify genes with the potential to cause the brain anomalies observed in Down's syndrome led to the discovery of a gene called Intersectin 1 (ITSN-1). In neurons in the brain, a specialized process called endocytosis is part of the synaptic transmission, and it is essential for neurons to communicate with one another. Evidence suggests that ITSN-1 is one of the genes involved in the uptake of signaling molecules into neurons. This fact, together with its location on chromosome 21 (the chromosome triplicated in DS), plus its increased expression in the developing DS brain, makes ITSN-1 a prime candidate for contributing to the early endocytic anomalies reported in both DS and AD brains. It is hoped that Dr. Pritchard's research will provide new insights into the functioning of the endocytic pathway in neurons by examining the role of ITSN-1 in edocytosis in animal models. The data from this study have the potential to provide new targets for drug design that will target the earliest neuropathological events in both DS and Alzheimer's disease.


Keating, D.J., Chen, C., and Pritchard, M.A. (2006) Alzheimer's disease and endocytic dysfunction: clues from the Down syndrome-related genes, DSCR1 and ITSN1. Ageing Research Rev. 5(4):388-401.  

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