The GDF provided support for Dana Doheny, MS, CGC, Department of Genetics & Genomic Sciences at the Icahn School of Medicine at Mount Sinai, to present the findings of a Fabry disease research study at the recent WORLD Symposium of the Lysosomal Disease Network in Orlando, FL. The study investigated the role and disease-causing effects of the A143T mutation (or change) in the Fabry gene, which is thought to result in Type 2 Late-Onset Fabry disease. However, this classification has recently been questioned by other investigators.
Ms. Doheny and colleagues at Mount Sinai worked in collaboration with genetic counselors at the Missouri Newborn Screening Program. Missouri is the first state to include Fabry disease in their newborn screening program and has found that over 60% of newborns diagnosed with Fabry have the A143T mutation. The two teams looked at the symptoms as well as the levels of alpha-galactosidase A enzyme (the enzyme that is deficient in males with Fabry disease) in the infants’ family members and other patients in whom the mutation has been identified. Additionally, the Mount Sinai team did further studies to determine the effect of the mutation on the enzyme functioning in the body. They also looked at whether other common mutations called “polymorphisms” in the Fabry gene – which by themselves do not cause Fabry disease — may have an additive effect in people with the A143T mutation, causing more severe symptoms.
The preliminary findings shed light on the disease-causing effect of the A143T mutation but are not conclusive, and, therefore, require continued investigation. It is expected that the results will be applied to better understand why the A143T mutation causes disease in some people and not others, and could have implications for the treatment and monitoring of newborns and patients in which the mutation is identified. The results of the investigation were also presented in a platform presentation at the conference by Dr. Robert Desnick, Dean of Genetics at Genomic Sciences at Mount Sinai.
Fore more information or to contact the author visit the Mount Sinai International Center for Fabry Disease.