MYH9 Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical MYH9-related Disease
We identified a novel fully segregating <i>MYH9</i> variant causing <i>MYH9</i>-related disease. Based on biochemical findings, we report the first gain-of-function variant of <i>MYH9</i>. We propose that the enhanced intrinsic motor activity of the p.(Arg424Gly) variant is a key contributor to the disease mechanism. Incorporation of the p.(Arg424Gly) variant into nonmuscle myosin IIA filaments and higher-order actomyosin assemblies may, in principle, affect actomyosin dynamics.
Authors
- Michael Sean Wiesener (ORCID: https://orcid.org/0000-0003-4992-3132)
- C Kolb
- Francesca Pasutto (ORCID: https://orcid.org/0000-0002-0026-5362)
- Florian J. Wopperer (ORCID: https://orcid.org/0000-0003-0065-6109)
- Shada Abuhattum (ORCID: https://orcid.org/0000-0002-1672-2767)
- Jochen Guck (ORCID: https://orcid.org/0000-0002-1453-6119)
- Lena Pollinger
- Christian H.K. Lehmann (ORCID: https://orcid.org/0000-0001-5927-9761)
- Antje Wiesener (ORCID: https://orcid.org/0000-0003-1476-2260)
- Christoph Daniel (ORCID: https://orcid.org/0000-0002-6803-4755)
- Kerstin Amann
- Mario Schiffer
- Melanie Grosch
- Tilman Jobst-Schwan
- Jan T. Schaefer
- André Hoerning
- Sara Kaliman
- Martin Kräter
- Dietmar J. Manstein
- Ina Brauer
- Johannes N. Greve
Institutions
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- German Climate Computing Centre (DE)
- TUM Klinikum (DE)
- Medizinische Hochschule Hannover (DE)
- Universitätsklinikum Erlangen (DE)
- Max Planck Institute for the Science of Light (DE)
- Comprehensive Cancer Center Erlangen (DE)
- Immunomedics (Germany) (DE)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2026-02-04
- DOI
- https://doi.org/10.1016/j.ekir.2026.106343
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00