Research Grant: Maren Leifheit-Nestler, PhD, Principal Investigator, and Malgorzata Szaroszyk, PhD, Co-Principal Investigator
“Cystinosis-Associated Myopathy: Impact of Musclin Gene Therapy and Exercise.”
This study investigates the role of the myokine musclin (encoded by OSTN) in cystinosis-associated myopathy, a common complication in patients with nephropathic cystinosis.
Key Findings:
Musclin levels are reduced in the skeletal muscles of Ctns-/- mice (a model of cystinosis). This reduction correlates with activation of cachectic (muscle-wasting) genes, suggesting a causative link between musclin deficiency and muscle degeneration in cystinosis. Previous research has shown that exercise can upregulate musclin, resulting in improved muscle strength in mice.
Therefore, restoring musclin expression may be a promising therapeutic strategy to counteract muscle wasting and improve muscle function in individuals with cystinosis. Read the full report. (Link)
