Cardiac Manifestations of Fabry Disease

Lysosomal storage disorders are rare genetic conditions that cause a buildup of toxic materials in the cells of various organs. Fabry disease (FD) is an X-linked disorder of glycosphingolipid metabolism caused by mutations in the GLA gene encoding alpha-galactosidase A. Manifestations of FD include life-threatening renal, cardiovascular, and cerebrovascular dysfunctions. Current treatments can preserve kidney function but are not very effective in preventing progression of cardiovascular pathology, which remains the most common cause of premature death in FD patients.

There is a significant need for a translational model that could be used for testing the cardiac efficacy of new drugs to treat FD. WuXi AppTec contributed to a research study which revealed that GlaKO mice exhibit several cardiac dysfunctions characteristic of the initial stages of Fabry cardiac pathology.