AI Paves the Way for Potential Cystinosis Treatment: Lysosomal Storage Disease Patients to Benefit

by Manuel Costa
3 comments
AI in Cystinosis Treatment

Researchers employing AI technology have discovered a potential therapeutic avenue for cystinosis, a rare kidney disorder. They have managed to repurpose the existing drug rapamycin, which the study found to be effective in controlling the mTORC1 protein, thus rejuvenating lysosomal activity and cellular functions in cell and organism models. This finding needs further clinical research to confirm its validity.

The field of drug discovery is increasingly acknowledging the critical role of artificial intelligence. Now, thanks to advancements in Big Data, learning algorithms, and powerful computational capacity, a team of researchers at the University of Zurich (UZH) has gained significant insights into this severe metabolic disorder.

Cystinosis, an uncommon lysosomal storage disorder, affects approximately 1 in 100,000 to 200,000 newborns across the globe. Nephropathic cystinosis, the most severe and prevalent variant of the disease, typically presents kidney disease symptoms in early infancy, often leading to kidney failure before the child turns ten.

“Children with cystinosis are battling a debilitating, multisystemic disease, and unfortunately, we don’t have curative treatments available yet,” notes Olivier Devuyst, leader of the Mechanisms of Inherited Kidney Disorders (MIKADO) group and co-director of the ITINERARE University Research Priority Program at UZH.

In collaboration with Insilico Medicine, a firm specializing in AI for drug discovery, UZH researchers have unveiled the cellular mechanism underlying kidney disease in cystinosis. By utilizing model systems and Insilico’s PandaOmics platform, they discovered the pathogenic pathways and significant therapeutic targets in cystinosis cells. This led to the identification of a key relationship between the mTORC1 protein regulation and the disease.

Research group leader Alessandro Luciani explains, “We found that cystine storage induces the activation of mTORC1 protein, which in turn disrupts kidney tubular cell differentiation and function.”

A promising treatment option identified

With cystinosis patients frequently requiring a kidney transplant, there is an urgent demand for more effective therapeutic interventions. The UZH research team used the PandaOmics platform to screen existing drugs that could be used for cystinosis treatment. This screening process included studying the drugs’ structure, target enzymes, potential side effects, and their effectiveness in the affected tissues. The approved drug rapamycin emerged as a hopeful candidate for cystinosis treatment. Tests in cell systems and model organisms confirmed that rapamycin restored lysosomal activity and rejuvenated cellular functions.

Olivier Devuyst and Alessandro Luciani are optimistic about the upcoming advancements, “While the therapeutic gains of this approach require additional clinical research, we believe that our findings, achieved through unparalleled interdisciplinary collaboration, bring us a step closer to a viable treatment for cystinosis patients.”

Study contributors

The study saw participation from scientists from the University of Zurich (UZH), the Faculty of Medicine at UCLouvain in Brussels, the Microsoft Research-University of Trento Centre for Computational and Systems Biology, and Insilico Medicine. The research was financially supported by the Cystinosis Research Foundation in the USA and the Swiss National Science Foundation (SNSF).

Citation: “Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization” 14 July 2023, Nature Communications.
DOI: 10.1038/s41467-023-39261-3

Frequently Asked Questions (FAQs) about AI in Cystinosis Treatment

What is cystinosis?

Cystinosis is a rare kidney disorder categorized as a lysosomal storage disease. It affects approximately 1 in 100,000 to 200,000 newborns worldwide. The most severe form, nephropathic cystinosis, presents with kidney disease symptoms in early infancy and can lead to kidney failure before the age of 10.

How has AI technology contributed to cystinosis research?

AI technology has played a significant role in cystinosis research by aiding in drug discovery and uncovering cellular mechanisms. Researchers at the University of Zurich (UZH) collaborated with Insilico Medicine, utilizing AI algorithms and the PandaOmics platform, to identify the link between the mTORC1 protein and cystinosis. This finding has potential implications for targeted treatments.

What is the significance of rapamycin in cystinosis treatment?

Through the use of AI analysis, researchers identified rapamycin, an already-approved drug, as a potential treatment for cystinosis. Rapamycin has shown effectiveness in regulating the mTORC1 protein, which restores lysosomal activity and cellular functions. While further clinical studies are required, these findings offer hope for improved therapeutic options for cystinosis patients.

Who was involved in the cystinosis research study?

The cystinosis research study involved scientists from the University of Zurich (UZH), the Faculty of Medicine at UCLouvain, the Microsoft Research-University of Trento Centre for Computational and Systems Biology, and Insilico Medicine. The study received funding from the Cystinosis Research Foundation in the USA and the Swiss National Science Foundation (SNSF).

Where can I find more information about the study?

For more information about the cystinosis research study, you can refer to the published article titled “Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization” in the journal Nature Communications (DOI: 10.1038/s41467-023-39261-3).

More about AI in Cystinosis Treatment

  • University of Zurich (UZH): Link
  • Insilico Medicine: Link
  • Nature Communications: Link
  • Cystinosis Research Foundation: Link
  • Swiss National Science Foundation (SNSF): Link

You may also like

3 comments

Sarah123 July 14, 2023 - 4:22 pm

this text is rly helpful! it explain cystinosis, a rare kidney disorder, and how AI is involved in research & treatment. rapamycin looks promsing! hope they can do more studys & find a cure.

Reply
LilyR July 14, 2023 - 10:11 pm

great job summarizing the study. it’s so cool how they repurposed an existing drug like rapamycin for cystinosis treatment. hope it works out and helps the patients. fingers crossed!

Reply
JSmith12 July 15, 2023 - 5:01 am

thx for the faqs! i had no idea what cystinosis was, but now i know. seems like AI is doin some amazing things in medicine. gonna check out those reference links for more info!

Reply

Leave a Comment

* By using this form you agree with the storage and handling of your data by this website.

SciTechPost is a web resource dedicated to providing up-to-date information on the fast-paced world of science and technology. Our mission is to make science and technology accessible to everyone through our platform, by bringing together experts, innovators, and academics to share their knowledge and experience.

Subscribe

Subscribe my Newsletter for new blog posts, tips & new photos. Let's stay updated!

© 2023 SciTechPost

en_USEnglish