Research
In 1957, Dr. Elena Broder gave A-T its name and in 1995, Dr. Yosef Shiloh from Tel Aviv University in Israel isolated the gene that cause A-T. This led to an increased interest in further research.
A-T is caused by a defect in the ATM gene, which is responsible for managing the cell’s response to multiple forms of stress including double-strand breaks in DNA. In simple terms, the protein produced by the ATM gene recognizes that there is a break in DNA, recruits other proteins to fix the break, and stops the cell from making new DNA until the repair is complete. In some simple words, the condition is caused by a fault on a gene which would normally help produce a protein called ATM. This protein monitors any damage to the DNA in cells and responds to it. The cells of the immune system are especially dependant on ATM, as in an area to the brain called the cerebellum, which controls movements and coordination.
A-T has been described as having the worst symptoms of four diseases: Cerebral Palsy, Muscular Dystrophy, Cystic Fibrosis and cancer.
Individuals of all races and ethnicities can have A-T. It affects equal numbers of boys and girls. The incidence world-wide is estimated to be between 1 of 40 000 births and 1 in 100 000 people.
A-T is an autosomal recessive genetic disease caused by two copies of an altered ATM gene. This means that both of the parents (who have only 1 working ATM gene) show no signs of the disease within themselves, but both carry one non-working gene. The affected child inherits 1 the non-working ATM gene from each parent. The chance of A-T carrying parents having a child with the disease is 25% and siblings have a two-thirds chance of being a carrier.