Treating Sleep Disorders in Fragile X Syndrome

Treating Sleep Disorders in Fragile X Syndrome
University of Wisconsin senior scientist Cara Westmark, PhD, studies the effect of promising therapeutics on sleep in Fragile X mice Your child finally falls asleep. You quickly celebrate before quietly turning to your favorite book or another episode of Game of Thrones. You tiptoe to bed. Exhausted, you slowly fall asleep. Enter deep REM. Minutes later, you are awoken loudly. Your bundle of joy with Fragile X syndrome (FXS) is now bouncing off you, wide awake, screaming, smiling, and demanding you join the party before you all return to bed after a few rounds of cajoling and pleading. Minutes later, repeat, rinse. Hitting home? The oh-my-it’s-way-too-early morning parties may be over if new research by Cara Westmark, PhD, is successful. Westmark, senior scientist, Department of Neurology, University of Wisconsin previously found proteins involved in Alzheimer’s disease are over expressed in Fragile X mice. She believes drug treatments that normalize theRead more

Crossroads of Fragile X and Alzheimers Research

Crossroads of Fragile X and Alzheimers Research
Claudia Bagni, PhD, an author of the new study published in Neuron and a previous recipient of a FRAXA research grant 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 dysfunctionRead more

Students at WPI helping FRAXA Research Foundation

Students at WPI helping FRAXA Research Foundation
Undergraduate students at Worcester Polytechnic Institute (WPI) complete what is known as the Interactive Qualifying Project (IQP). Student groups work closely with local or national sponsors during their junior year to complete a project that benefits their community. Two student groups from WPI are working with FRAXA to provide research-based improvements to the FRAXA.org website, and to develop a mobile FRAXA app. Biomedical Engineering major Krisha Nazareth and Computer Science major Christopher Gillis are working on the app development team (Team App). Team App is working to create a mobile app which will use GPS services on smart phones to inform users of nearby clinical trials, resources and events. The app will also host a discussion board for members of the Fragile X community. Biology and Biotechnology majors Rachel Prescott and Collette Bora and Mechanical Engineering major Heather Lavoie are performing research to make strategic improvements to the FRAXA.org website (TeamRead more

Compound that Inhibits mGluR5 Corrects Signs of Fragile X in Adult Mice

A study finds that a new compound reverses many of the major symptoms associated with Fragile X syndrome (FXS). The paper is published in the April 12 issue of the journal Neuron, describes the exciting observation that the FXS correction can occur in adult mice, after the symptoms of the condition have already been established. Previous research has suggested that inhibition of mGlu5, a subtype of receptor for the excitatory neurotransmitter glutamate, may ameliorate many of the major symptoms of the disease. This study, a collaboration between a group at Roche in Switzerland, led by Dr. Lothar Lindemann, and Dr. Mark Bear’s MIT lab, used an mGlu5 inhibitor called CTEP to examine whether inhibition of mGlu5 could reverse FXS symptoms. The researchers gave CTEP to mice which model Fragile X. "We found that even when treatment with CTEP was started in adult mice, it reduced a wide range of FXSRead more

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2 years, Dr. Michael Wilhelm and his team at the University of Wisconsin studied a protein known as JNK, which is observed to be abnormally regulated in Fragile X. Like FMRP, it is involved in regulating dendritic protein synthesis, and so it may be a target for drug therapy in Fragile X.

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Using Fenobam to Reduce APP and Abeta in Fragile X Mice

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

With a $130,000 grant from FRAXA Research Foundation over 2008-2008, Drs. James Malter and Cara Westmark at the University of Wisconsin studied the relationship between the Fragile X protein FMRP and APP, a protein important to the pathology of Alzheimer’s Disease. APP may also contribute to the pathology of Fragile X, and its major metabolite, Aß, may contribute to abnormal protein synthesis via a positive feedback loop. This project sought to restore normal dendritic protein synthesis in Fragile X mice by breaking into this loop.

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