What is it about?

In its severest form, the lysosomal storage disease cystinosis is characterized by accumulation of cystine; renal proximal tubule dysfunction; and kidney failure. Oral cysteamine therapy is the only treatment option for cystinosis patients and despite life-long use patients still require a kidney transplant due to progressive destruction of the proximal tubule segments. The reason for this remains unknown. The authors developed induced pluripotent stem cell and kidney organoid models of cystinosis that exhibit cystine accumulation, increased apoptosis, enlarged lysosomes and defective basal autophagy. Cysteamine treatment was unable to rescue the basal autophagy defect however, mTOR inhibition with everolimus was able to restore basal autophagy to levels of healthy controls. Combination treatment with cysteamine was able to correct all cystinotic symptoms observed suggesting that a dual therapy may be therapeutic to patients with cystinosis and improve outcomes.

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Why is it important?

There is a pressing need for new therapies to treat cystinosis as the current treatment, cysteamine, only slows progression of this disease. Our findings suggest that mTOR inhibition may have therapeutic potential in treating this rare disease.


I hope this article informs more people about cystinosis.

Jennifer Hollywood
University of Auckland

Read the Original

This page is a summary of: Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis, Journal of the American Society of Nephrology, March 2020, American Society of Nephrology,
DOI: 10.1681/asn.2019070712.
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