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
Boston Children's Hospital (BCH), United States of America (USA) 0.31
Tohoku University, Japan 0.12
Icahn School of Medicine at Mount Sinai (ISMMS), MSHS, United States of America (USA) 0.05
Kobe University, Japan 0.05
National University of Singapore (NUS), Singapore 0.03
NIH NCI Center for Cancer Research (CCR), United States of America (USA) 0.03
University Hospital Magdeburg (UKMD), OVGU, Germany 0.03
King Abdulaziz University Hospital (KAUH), KSU, Saudi Arabia 0.03
University of Belgrade, Serbia 0.03
Yale University, United States of America (USA) 0.02
Gunma University, Japan 0.02
Jamia Millia Islamia (JMI), India 0.02
Cairo University (CU), Egypt 0.02
Asfendiyarov Kazakh National Medical University (KazNMU), Kazakhstan 0.02
All India Institute of Medical Sciences - New Delhi (AIIMS New Delhi), India 0.02
Tamil Nadu Dr. M.G.R. Medical University (TNMGRMU), India 0.02
Hannover Medical School (MHH), Germany 0.02
Medical University of Innsbruck (MUI), Austria 0.02
Kantonsspital Lucerne, Switzerland 0.02
University Hospital of Munich (KUM), LMU, Germany 0.02
University Medical Center Göttingen (UMG), Germany 0.02
King Abdulaziz University (KAU), Saudi Arabia 0.02
Himeji Red Cross Hospital, Japan 0.02
Hyogo Prefectural Kobe Children's Hospital, Japan 0.02
Kansai Medical University (KMU), Japan 0.02
Health Innovation Manchester, United Kingdom (UK) 0.02
University of Bristol (UoB), United Kingdom (UK) 0.01
Yonsei University Health System (YUHS), South Korea 0.01
The Rockefeller University, United States of America (USA) 0.01
University of Toronto (U of T), Canada 0.01
University Health Network (UHN), U of T, Canada 0.01