Circulating miR-184 is a Potential Biomarker of Cardiac and Renal Damage in Anderson-Fabry Disease

The clinical symptoms of Fabry disease are caused by progressive accumulation of unprocessed globotriaosylceramide metabolite within cells, inducing multiple organ damage. Enzyme replacement therapy (ERT) is the only strategy to restore enzymatic activity, but a reliable biomarker to assess treatment response does not exist. Here, we identify circulating miR-184 as a sensitive marker of response to ERT and of clinical outcome for cardiac and kidney involvement. We profiled 4 healthy controls and 8 Anderson Fabry disease patients before commencing theraphy. We compared the pre-ERT data to controls in order to identified some candidate significantly modulated in AFD patients to validate in a large cohort of AFD patients.