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Kidney Week

Abstract: PO1607

Circular RNA-Based Biomarker Profile of Patients with Fabry Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Nowak, Albina, University Hospital Zurich - Department of Endocrinology, Zurich, Switzerland
  • Haddad, George, University Hospital Zurich - Department of Nephrology, Zurich, Switzerland
  • Kistler, Andreas D., Cantonal Hospital Frauenfeld - Department of Medicine, Frauenfeld, Switzerland
  • Nlandu khodo, Stellor, University of Zurich - Institute of Physiology, Zurich, Switzerland
  • Wuthrich, Rudolf P., University Hospital Zurich - Department of Nephrology, Zurich, Switzerland
  • Lorenzen, Johan M., University Hospital Zurich - Department of Nephrology, Zurich, Switzerland
  • Kölling, Malte, University Hospital Zurich - Department of Nephrology, Zurich, Switzerland

Fabry disease is a rare X-linked lysosomal storage disease, caused by mutations in the galactosidase α gene. Deficient activity of α-galactosidase A leads to glycosphingolipid accumulations in multiple organs. Circular RNAs represent strong regulators of gene expression. Their circular structure ensures high stability in blood. We hypothesized, that blood-based circular RNA profiles improve phenotypic assignment and therapeutic monitoring of Fabry Disease.


A genome-wide circular RNA expression analysis was performed in blood of 58 genetically diagnosed patients with Fabry Disease and 14 age- and sex matched healthy controls. Most highly increased circular RNAs were validated by quantitative real-time PCR. A disease control cohort of 109 patients with acute kidney injury was included. Linear regression analyses were performed for validated circular RNAs and clinical patient characteristics.


A distinct circular RNA transcriptome signature identified patients with Fabry Disease. Circular RNAs hsa_circ_0006853, hsa_circ_0083766 and hsa_circ_0002397 distinguished patients with Fabry Disease from healthy controls and patients with acute kidney injury. Hsa_circ_0002397 demonstrated, furthermore, a female-specific circular RNA expression pattern. Circular RNA level were significantly related to galactosidase α gene mutations, early symptoms, phenotypes, disease severities, specific therapies and long-term complications of Fabry Disease.


The discovery of circular RNA-based and Fabry Disease specific biomarker may advance future diagnosis and therapeutic monitoring to diminish long-term complications of Fabry Disease.


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