David Relph
David's Tour of Yorkshire page
Fundraising for Action for A-T
Story
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WHAT IS A-T?
A-T (Ataxia Telangiectasia) is a rare, genetic degenerative disease of childhood, which affects multiple systems of the human body. In people affected with A-T, a gene called ATM is mutated. The ATM gene contains the instructions for the production of the ATM protein. Thus, in A-T patients, the ATM protein is usually not produced at all, or is severely defective. The ATM protein controls many important functions in cells. A major function of ATM is orchestrating the complex response to specific types of damage inflicted on the DNA particularly by ionising radiation. Maintenance of DNA stability and integrity is critical for normal cellular life and therefore, cells devoid of ATM lack this vital defence mechanism. The nervous, immune and reproductive systems are particularly sensitive to the loss of ATM function.
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