Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Journal: Nature Communications

Published: 2018-05-17

DOI: 10.1038/s41467-018-04193-w

Affiliations: 35

Authors: 65

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Research Highlight

New genes linked to kidney disease



The discovery of six genes linked to nephrotic syndrome could aid the hunt for new ways to treat this chronic kidney disease.

Nephrotic syndrome occurs when tiny filtering units in the kidneys stop functioning properly, which causes excessive protein to be excreted in urine.

Now, a team that included investigators from Tohoku University’s United Centers for Advanced Research and Translational Medicine has identified recessive mutations in six genes that explained cases of nephrotic syndrome in 17 families from around the world.

Lab studies with cultured kidney cells helped reveal how the proteins encoded by the mutated genes interact to regulate kidney function.

All the patients responded partially to steroid treatment, but the regulatory pathway revealed by the study may offer new drug targets for steroid-resistant disease — a form of nephrotic syndrome for which no effective therapies currently exist.

Supported content

  1. Nature Communications 9, 1960 (2018). doi: 10.1038/s41467-018-04193-w
Institutions Share
Department of Medicine (DoM), BCH, United States of America (USA) 0.31
Graduate School of Medicine / School of Medicine, Tohoku University, Japan 0.09
Division of Nephrology, ISMMS, United States of America (USA) 0.05
Graduate School / School of Medicine, Kobe University, Japan 0.05
NIH NCI Laboratory of Cellular Oncology (LCO), United States of America (USA) 0.03
Institute of Human Genetics (IHG), OVGU, Germany 0.03
School of Medicine (BUSM), University of Belgrade, Serbia 0.03
King Abdulaziz University Hospital (KAUH), KSU, Saudi Arabia 0.03
NUS Mechanobiology Institute, Singapore (MBI), Singapore 0.02
Yale Department of Genetics, United States of America (USA) 0.02
Faculty / Graduate School of Medicine, Gunma University, Japan 0.02
Faculty of Natural Sciences (FNS), JMI, India 0.02
Department of Pediatric Medicine, CU, Egypt 0.02
Department of Pediatrics, AIIMS New Delhi, India 0.02
Tamil Nadu Dr. M.G.R. Medical University (TNMGRMU), India 0.02
Department of Paediatric Kidney, Liver and Metabolic Diseases, MHH, Germany 0.02
Department of Child and Adolescent Health, MUI, Austria 0.02
Kantonsspital Lucerne, Switzerland 0.02
Asfendiyarov Kazakh National Medical University (KazNMU), Kazakhstan 0.02
Klinik für Kinder- und Jugendmedizin, Georg-August-Universität Göttingen, Germany 0.02
Division of Cell Proliferation, Tohoku University, Japan 0.02
Faculty of Medicine, KAU, Saudi Arabia 0.02
Klinikum Memmingen, Germany 0.02
United Centers for Advanced Research and Translational Medicine (ART), Tohoku University, Japan 0.02
Himeji Red Cross Hospital, Japan 0.02
Hyogo Prefectural Kobe Children's Hospital, Japan 0.02
Department of Internal Medicine 2, KMU, Japan 0.02
Health Innovation Manchester, United Kingdom (UK) 0.02
Bristol Renal, UoB, United Kingdom (UK) 0.01
NUS Department of Biological Sciences, Singapore 0.01
Brain Korea 21 Project for Medical Science, Yonsei University, South Korea 0.01
Laboratory of Human Genetics and Genomics, The Rockefeller University, United States of America (USA) 0.01
Division of Nephrology, U of T, Canada 0.01
University Health Network (UHN), U of T, Canada 0.01