The identification of the A-T gene and the isolation of a mutated A-T gene (ATM) in recent years have made genetic screening possible. UCLA researchers have identified several genetic mutations in ATM that may lead to the onset of A-T, thus allowing for presymptomatic and more accurate diagnosis. Genetic analysis of 41unrelated, A-T afflicted individuals showed twenty-one truncation mutations for which the relationship of such mutants can provide more insights into A-T etiology. In addition, UCLA researchers have developed new diagnostic tools and probes for A-T detection.

Currently, there is no cure for A-T and most afflicted individuals die at early adolescence. Therefore, achieving a better understanding of the etiology of the disease, and the ability to diagnose the disease earlier, may give rise to the development of better treatments and perhaps a cure. Moreover, the identification of ATM mutations can be advantageous in other applications. For example, heterozygous A-T females may be five times more likely to develop breast cancer than non-carriers. Therefore, mutation analysis of ATM may also play a significant role in the etiology of breast cancer as well as that of A-T.

Reference: UCLA Case No. 1996-615

US Patent No.: 5,955,279