New Discoveries in Human Cilia Proteins: Unlocking Clues to Childhood Disorders (2025)

Imagine if tiny, antenna-like structures on our cells held the key to understanding and treating a range of childhood disorders. Sounds like science fiction, right? But it’s not. A groundbreaking study has just uncovered hundreds of new proteins within these structures, called primary cilia, offering fresh clues to diseases that affect everything from the brain to the bones. And this is the part most people miss: these cilia aren’t just passive sensors—they’re highly adaptable information processors, fine-tuning their protein makeup to suit the needs of the cell they belong to.

Published in the prestigious journal Cell (https://doi.org/10.1016/j.cell.2025.08.039), researchers from KTH Royal Institute of Technology and Stanford University used cutting-edge imaging and antibody-based techniques to map proteins inside primary cilia across three types of human cells. By analyzing over 128,000 individual cilia, they identified 715 proteins that play roles in sensing mechanical or chemical signals, such as hormones. These findings expand our understanding of ciliary biology and open new avenues for disease research and therapy development.

But here’s where it gets controversial: Among their discoveries, the team identified 91 proteins never before linked to cilia, raising questions about their functions and potential roles in disorders. Professor Emma Lundberg (https://www.scilifelab.se/researchers/emma-lundberg/), a leading expert in cellular and clinical proteomics (https://www.kth.se/pro/cellular-proteomics/division-of-cellular-and-clinical-proteomics-1.860584), suggests that cells may customize their cilia’s protein composition to perform specific sensing tasks. This adaptability challenges traditional views of cilia as simple sensors and positions them as dynamic, versatile structures.

The study also pinpointed a gene variant, CREB3, in a child with symptoms resembling ciliopathies—a class of disorders linked to cilia malfunctions. These conditions can manifest in diverse ways, from extra fingers to kidney defects, making diagnosis challenging. Lead author Jan Hansen highlights how their spatial atlas of cilia proteins could revolutionize diagnostics for rare ciliopathies, where understanding the protein makeup has been a significant hurdle.

Here’s the thought-provoking question: Could this research not only improve diagnostics but also lead to personalized therapies for ciliopathies? As the data is now publicly available through the Human Protein Atlas (https://www.proteinatlas.org/), the scientific community has a powerful tool to explore these possibilities. Lundberg’s commitment to open science ensures that these findings can inspire new hypotheses and collaborations worldwide.

What do you think? Does this study mark a turning point in our understanding of cilia and their role in disease? Share your thoughts in the comments below!

Reference: Hansen JN, Sun H, Kahnert K, et al. Intrinsic heterogeneity of primary cilia revealed through spatial proteomics. Cell. 2025:S0092867425010293. doi: 10.1016/j.cell.2025.08.039 (http://www.doi.org/10.1016/j.cell.2025.08.039)

This article is republished from KTH Royal Institute of Technology (https://www.kth.se/en/om/nyheter/centrala-nyheter/human-cilia-study-finds-new-proteins-offers-clues-to-childhood-disorders-1.1426690). Note: Content may have been edited for clarity and length. For further details, contact the cited source. Our press release publishing policy is available here (https://www.technologynetworks.com/tn/editorial-policies#republishing).

New Discoveries in Human Cilia Proteins: Unlocking Clues to Childhood Disorders (2025)

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