Overview
- Researchers analyzed 684 individuals across 302 families with multiple cases of Barrett’s esophagus or esophageal cancer and found inherited VSIG10L mutations in a subset of affected relatives.
- Laboratory studies show VSIG10L acts as a quality-control mechanism for esophageal cells, with loss of function impairing maturation and weakening barrier integrity.
- Genetically engineered mice carrying human-equivalent VSIG10L mutations developed structural and molecular disruption of the esophageal lining and progressed to Barrett’s-like disease after bile-acid exposure.
- The mouse model is described as the first for Barrett’s esophagus based directly on human genetic predisposition.
- The peer-reviewed findings were published in Nature Communications, and the team says family members can now be screened for VSIG10L variants to flag higher-risk individuals.