Researchers investigate treatment targets which may address both Fragile X Syndrome and Alzheimer’s disease
Last week researchers at VIB Leuven in Belgium published evidence that a brain pathway involving the protein APP (Amyloid Precursor Protein) plays a vital role in development of Fragile X syndrome, one of the most common causes of autism. Scientists led by Dr. Emanuela Pasciuto in the laboratory of Prof Claudia Bagni published findings of their study in the journal Neuron. The team identified the molecular mechanisms behind the elevated levels and metabolism of APP protein in a mouse model. This dysregulation affects brain development and behavior, at a stage where the infant’s neuronal connections i.e. synapses are being formed and remodeled. Using a newly developed agent the team was able to reduce the cellular dysfunction and behavioral alterations paving way for potential new therapies for autism in the future.
The Fragile X and Alzheimers APP Connection
APP is implicated in different ways in both Fragile X and Alzheimers. People with Fragile X have high levels of APP but they are NOT at high risk for getting Alzheimers. On the other hand, in people with Alzheimers, by-products of APP accumulate in brain tissues, leading to damaging plaques. In neither disease is the mechanism fully understood; research to date has focused on mouse models of both diseases. There is growing interest in treatment strategies for both Fragile X and Alzheimers that reduce APP, and a number of pharmaceutical companies have intense interest in developing drugs that target APP.
Other FRAXA Research Teams working the Fragile X and Alzheimers Connection
Cara Westmark, PhD — University of Wisconsin Dr. Westmark is also working on APP.
Paul Lombroso, PhD — Yale Child Study Center Dr. Lombroso investigates another protein, STEP, which plays a role in both Fragile X and Alzheimers.