An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins.

ABSTRACT:

Background

Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional systemic phenotypes like myopathy later in life. Muscle weakness is a major concern leading to life-threatening events in patients, and yet the aetiology of cystinosis myopathy remains to be elucidated.

Methods

We generated human muscle cell-based models using CRISPR technology to explore the pathophysiology of cystinosis myopathy with the potential to develop new therapies. We used a 4-day differentiation protocol of myoblasts into myotub

SUBMITTER: Medaer L 

PROVIDER: S-EPMC12598300 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature