Genetic Link to SIDS - KCBD NewsChannel 11 Lubbock

7/20/04

Genetic Link to SIDS

Researchers have uncovered what may be the first direct genetic link to why some babies suffer from sudden death. Scientists at the Genomics Research Institute say what they have found guarantees death in the first year of life.

"If an individual inherits two broken copies of gene, they will die before their first birthday with 100% probability," says Dr. Dietrich A. Stephan, SIDS researcher.

The gene is called TSPYL, and in the study, every baby born with two copies of the gene died. The researchers are now in the process of trying to figure out risk factors for carrying the defective gene, which is supposed to help control heart rate and breathing. The hope is that someday high tech screening tools can be used to find the problem early.

Researchers note that one of the infants in the study died in the hospital while awake and attached to a cardiac-respiratory monitor. The monitor showed the child's heart and breathing function stopped suddenly at the same moment.

Researchers note that the discovery also demonstrates the rapidly increasing speed of modern medical research. The mapping and identification of the gene was performed in less than two months from start to finish, a process that in the past, would have taken years.

The findings are the result of is a unique collaboration between the Clinic for Special Children, which serves the Amish and Mennonite communities for their high burden of genetic disease, with a high-powered genome institute at the Translational Genomics Research Institute.

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