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Accelerating Research to Find a Cure for A-T

Battling an Unrelenting Enemy

A-T is one of several DNA repair disorders which results in neurological abnormalities or degeneration. Arguably some of the most devastating symptoms of A-T are caused by a progressive degeneration of the cerebellum (that area of the brain which controls motor coordination). Until scientists understand why the absence or a deficiency of A-T protein causes brain cell loss, and how this loss in turn affects brain circuitry, more effective ways to treat patients will remain elusive. The key to understanding the neurological symptoms associated with A-T lies in figuring out how this defective gene affects the brain.

In June of 1995, Dr. Yosef Shiloh’s laboratory in Israel, working with many other research labs, isolated the gene that causes A-T. Since then, more and more scientists around the world have become interested in A-T and are conducting many new studies to help figure out this brutal disease.

We now know that the A-T protein (ATM) sends important signals to several different systems working in our cells by modifying other proteins and consequently activating or inactivating them. 

Researchers have determined that the "trigger" that causes ATM to start doing its job is when DNA has been damaged in a certain way by radiation, chemicals or cellular metabolites. Therefore, ATM is part of a signaling system that alerts the cell that DNA damage has occurred and provides instructions for what actions should be taken as a consequence of this damage.

To accelerate first rate international research to find a cure or life-improving therapies for A-T, the A-T Children’s Project funds innovative basic science research, translational (bench to bedside) research and clinical research and trials.

How our thinking about A-T research and the brain has evolved

When the A-T Children’s Project began, we focused intensely on the cause of the disease. The question we wanted scientists to answer was, “What causes children with A-T to lose their brain cells?” We believed that if we understood the cause, we could quickly find a way to address it and stop the disease in its tracks.

This question required, and still requires, a lot of basic science research. However, based on what scientists have discovered to date about how the ATM protein functions in cells, we now have several ideas or hypotheses as to why brain cells are dying in A-T. One day these ideas may lead to treatments.

Although the A-TCP continues to support exciting projects in the area of basic biological research, we are also interested in answering the question, “How can we slow brain cell death in A-T children?”

Focusing on ways we can help support brain cells has led us to investigate many possible treatments including: antioxidants, anti-inflammatory agents, HDAC inhibitors, anti-cell death agents, cell cycle inhibitors, growth factors and therapeutic neural stem cells.

As we’ve come to realize that many children with A-T have lost almost all of their Purkinje neurons (those brain cells most affected by the absence of ATM), we’ve become eager to answer a third question, “How can we help A-T children who have already lost brain cells?”

If we want to do something now to alleviate the neurological symptoms associated with A-T, we need to increase our understanding of how brain circuits are disrupted in this disease. So, the A-T Children’s Project has engaged world experts in brain circuitry and neuroimaging to help discover what circuits are disrupted in A-T and what therapeutic approaches can be used to correct the abnormal circuitry.

Our race for a cure is as unrelenting as the disease itself, and we will continue to pursue new approaches to accelerate A-T research and uncover possible therapies.

 

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