Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.

ABSTRACT:

Background

Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out of the lysosome. Loss of transporter function leads to intralysosomal cystine accumulation and long-term damage to various tissues and organs, including the kidneys, eyes, liver, muscles, pancreas, and brain. The only cystine-depletion therapy for treatment of cystinosis is cysteamine which requires frequent administration of high doses and often causes gastrointestinal pain as well as pungent sulfurous odor in patients. The current in vitro study evaluated antioxidants, N-acetylcysteine amide (NACA; NPI-001) and (2R,2R')-3,3'-disulfanediyl bis(2-acetamidopropan

SUBMITTER: Hector E 

PROVIDER: S-EPMC9205078 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature