Bar Harbor -- Scientists at The Jackson Laboratory are working towards identifying the gene that causes Alström Syndrome. The research is providing increased understanding of the genetic basis for the disease and may offer fundamental insights into the underlying causes of obesity, diabetes, and sensory defects in humans.
As part of the research effort, 46 living Alström individuals have been located in 10 countries, including the U.S. and Canada. Many of those individuals will be attending the Second International Alström Syndrome Gathering, sponsored by the Society for Alström Syndrome Families, July 17-21 in San Luis Obispo, Calif. The first Alström gathering was in Yarmouth, Nova Scotia, in 1995, when only nine individuals were known.
The rare inherited syndrome, first described in 1959 by Swedish physician C.H. Alström, is a disease of the young, causing progressively severe conditions such as blindness, hearing loss, kidney disease, scoliosis, obesity, heart disease, and non-insulin-dependent (type 2) diabetes. There is no known cure.
Alström syndrome is a recessive genetic disorder. Parents who carry the defective gene don't show any signs of the disease. In order for a child to be affected, he or she must inherit the defective gene in combination from both parents. This requirement for a "double dose" of the Alström gene explains why the syndrome is so rare.
Progress towards finding the molecular basis for the Alström gene at The Jackson Laboratory has been accomplished through a combination of research in the labs of Drs. Patsy M. Nishina and Jrgen Naggert and genealogical sleuthing by Jan D. Marshall, a senior professional assistant for Dr. Nishina who is a leading point of contact for Alström families and maintains an Alström Syndrome webpage at http://www.jax.org/alstrom.