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Sarwal Lab »  Research »  Clinical & Translational Research »  Cystinosis Research, A Rare Autosomal Recessive Lysosomal Storage Disorder

Cystinosis Research, A Rare Autosomal Recessive Lysosomal Storage Disorder

Cystinosis and impaired autophagy/Mitophagy: Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by the mutations in the CTNS gene encoding the lysosomal membrane transporter cystinosin, resulting in the accumulation of toxic metabolite cysteine in the cells. Continuous cystine accumulation eventually leads to multiorgan dysfunction and in the absence of treatment, they usually develop progressive renal failure by the end of the first decade. Treatment with the drug cysteamine depletes the intracellular cystine and if used early in the disease and in high doses it can lower the progression of renal glomerular damage and extra-renal organ injury. 

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