Three new genetic markers for debilitating Fuchs Dystrophy

Researchers have discovered three new biomarkers for Fuchs dystrophy that could soon help science develop therapeutic or preventive treatments for the disease.The heritable disease causes painful corneal swelling and blurred vision. An estimated 4% of adults in the US aged over 40 have the disease and it can currently only be addressed with a corneal transplant from a deceased donor.{{quote-A:R-W:450-I:2-Q:“Ways to help cure this disease are necessary as the US population gets older. Considering there is currently no clinical screening tool other than family history, this is a significant advance.”-WHO:Sudha Iyengar, Epidiology and Biostatistics Professor}}Previously only one gene, TCF4, was associated with the disease. However, the new findings identified three variations – KANK4, LAMC1, and ATP1B1 – which quadrupled the number of known markers. None of these had previously been associated with Fuchs dystrophy.The team, headed by Epidiology and Biostatistics professor Sudha Iyengar, vice chair for research at Case Western Reserve University School of Medicine in Ohio, was composed of 36 researchers from all around the world who compared DNA sequences of 2,075 subjects diagnosed with Fuchs dystrophy and 3,342 without it. They initially identified 18 genetic variations from the test subjects, which were narrowed down to three variations through corneal laboratory models.The researchers discovered gender-specific genes in Fuchs dystrophy, where men possessing a certain variation of the TCF4 gene are at a greater risk of contracting the disease. Women, on the other hand, with a variation of the newly discovered LAMC1 were also more likely to develop the disease.It’s believed the newly found genetic markers will help predict the risk of people developing the disease with approximately 78% accuracy.“In most individuals with Fuchs Endothelial Corneal Dystrophy (FECD), the cause of the disease is unknown. It was thought that genetics only played a role in those with a family history of FECD. Our results pointed to three new genetic markers for FECD and confirmed the vital role of a previously known marker, even among those who did not have a previously known family history of the disease. Thus, our work showed that knowing the genetic architecture is key to understanding this disease,” Iyengar said.“Ways to help cure this disease are necessary as the US population gets older. Considering there is currently no clinical screening tool other than family history, this is a significant advance,” he added.