APS Annual Meeting at Experimental Biology

From Genes to Physiology: Advances in Renal Electrolyte Reabsorption

Symposium — Tuesday, April 5, 2022 — 8:30 AM - 10:00 AM — Convention Center, Room 201A
Renal Section — Chair: Jeroen H.F. de Baaij — Co-Chair: Oleh Pochynyuk

In the last year, next generation sequencing approaches have resulted in the identification of novel Mendelian disorders in the kidney. Coupling gene discovery to functional studies has provided insight in the physiology of electrolyte reabsorption. Single-cell RNA sequencing of the distal tubule segment has provided a map of the expression patterns in this segment. Mendelian disorders further help in linking the genes to physiology. In particular, the function of basolateral potassium channels in proximal and distal tubules has been further elucidated by the report of KCNJ16 mutations in patients with hypokalemia and acid-base disturbances. Moreover, RRAGD mutations causing hyperactivation of mTOR demonstrated the importance of this signaling pathway for magnesium reabsorption. The identification of CLDN10 mutations has provided insights in thick ascending limb physiology. Altogether, these genetic analysis link kidney physiology to human disease.


  • Introduction
    Jeroen H.F. de Baaij — Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    8:30 AM - 8:35 AM

  • Mapping Gene Expression Along the Distal Nephron Using Single-Cell and Single-Tubule RNA-seq
    Mark A. Knepper — Systems Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health
    8:35 AM - 8:55 AM

  • Of Mice and Man: The Dual Role of Claudin-10 for Renal Ion Reabsorption
    Dorothee Gunzel — Institute of Clinical Physiology / Nutritional Medicine Charit√©, Universit√§tsmedizin Berlin
    8:55 AM - 9:15 AM

  • mTOR-Activating Mutations in RRAGD are Causative for Kidney Tubulopathy and Cardiomyopathy
    Jeroen H.F. deBaaij — Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    9:15 AM - 9:35 AM

  • Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
    Aparna Renigunta — Pediatric Nephrology, Marburg Kidney Research Center, Philipps University, Marburg, Germany
    9:35 AM - 9:55 AM

  • Closing Remarks
    Oleh Pochynyuk — Integrative Biology and Pharmacology, University of Texas
    9:55 AM - 10:00 AM

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