Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside.

ABSTRACT: Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine transporter. Cystinosis is characterized by the lysosomal accumulation of cystine, a dimer of cysteine, in all the cells of the body leading to multi-organ failure, including the failure of the kidney, eye, thyroid, muscle, and pancreas, and eventually causing premature death in early adulthood. The current treatment is the drug cysteamine, which is onerous and expensive, and only delays the progression of the disease. Employing the mouse model of cystinosis, using Ctns^-/- mice, we first showed that the transplantation of

SUBMITTER: Cherqui S 

PROVIDER: S-EPMC8699556 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature