A team of researchers at Case Western Reserve University has discovered an inherited mutation in a gene associated with a highly lethal form of cancer in the esophagus, known as esophageal adenocarcinoma (EAC). This breakthrough was achieved by studying genes in families predisposed to certain diseases.
The identified gene, Caveolin-3 (CAV3), plays a pivotal role in the development of EAC. Caveolins are cellular structural components that regulate various proteins essential for cell functionality. The study revealed that CAV3 is typically present in specialized cells in the esophagus, and when the esophagus is injured, these cells containing CAV3 move to heal the damage. However, the identified mutation in CAV3 impairs its normal function, preventing the proper healing of the injured esophagus.