An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins
Muscle-specific complications are often overlooked in systemic cystinosis treatment. We show that defective CTNS function impairs effective cystine mobilization from lysosomes, thereby affecting the protein levels of myogenic regulators. A deeper understanding of the molecular mechanisms underlying cystinosis myopathy holds promise for the development of targeted, personalized therapies to improve the quality of life for patients living with cystinosis.
Authors
- Els Verhoeyen (ORCID: https://orcid.org/0000-0001-9224-5491)
- Achim Treumann
- Elena Levtchenko (ORCID: https://orcid.org/0000-0002-8352-7312)
- Rik Gijsbers (ORCID: https://orcid.org/0000-0003-0191-3904)
- Tim Vervliet (ORCID: https://orcid.org/0000-0002-4030-5875)
- Laura Yedigaryan (ORCID: https://orcid.org/0000-0002-1701-9109)
- Nefele Giarratana (ORCID: https://orcid.org/0000-0002-8143-6230)
- Sebastiaan Eeltink (ORCID: https://orcid.org/0000-0002-5465-0127)
- Zhuoheng Zhou (ORCID: https://orcid.org/0000-0002-7940-1880)
- Vincent Mouly (ORCID: https://orcid.org/0000-0003-3809-4033)
- Maurilio Sampaolesi (ORCID: https://orcid.org/0000-0002-2422-3757)
- Louise Medaer (ORCID: https://orcid.org/0000-0003-2998-7358)
- Rita La Rovere
- René Mora (ORCID: https://orcid.org/0009-0009-6392-7755)
Institutions
- Université Claude Bernard Lyon 1 (FR)
- École Normale Supérieure de Lyon (FR)
- Centre National de la Recherche Scientifique (FR)
- Vrije Universiteit Brussel (BE)
- Inserm (FR)
- Sorbonne Université (FR)
- Centre National pour la Recherche Scientifique et Technique (CNRST) (MA)
- Advanced Pharma (US)
- Emma Kinderziekenhuis (NL)
- Institut de Myologie (FR)
- Centre Méditerranéen de Médecine Moléculaire (FR)
- Cellular Research (United States) (US)
- Cystinosis Ireland (IE)
- Centre International de Recherche en Infectiologie (FR)
- Centre de Recherche en Myologie
- Sapienza University of Rome (IT)
- KU Leuven (BE)
Publication Details
- Journal
- Journal of Cachexia Sarcopenia and Muscle
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1002/jcsm.70116
- Primary Topic
- Biomedical Research and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Health Research Charities Ireland
- Newcastle University
- Fonds Wetenschappelijk Onderzoek
- Ministero della Salute
- KU Leuven
- Cystinosis Ireland
- Vlaamse regering
- European Rare Kidney Disease Reference Network
- Rondoufonds voor Duchenneonderzoek
- Universitaire Ziekenhuizen Leuven, KU Leuven
- Interreg