Cause and Effect

It’s possible to know what's causing a problem without understanding how it's doing harm. Researchers knew that mutations in the gene which makes the protein INVS is linked to nephronophthisis – a cause of kidney failure in young people. But without understanding the mechanism, this knowledge hasn’t led to new treatments. A new study examined the effect of removing INVS from various kidney cells, and found that cysts and scarring – symptoms of nephronophthisis – then arose in kidney lining cells but not others. These impacts were reduced when cilia – tiny protrusions from cells – were removed, suggesting they are key to the disease progression. They observed some affected cells over-proliferating (green in the kidney section pictured, with lining cells encircled in pink), which is a driver of cysts. Armed with this understanding, the researchers discovered a new potential treatment, valproic acid, which is already in use for other conditions like epilepsy.

Written by Anthony Lewis

Anthony Lewis

Writer

Ant was the web editor in the early days of BPoD, and has since worked with the UK’s top science organisations as a writer and multimedia producer. He now splits his time between freelance work and managing multimedia at The Lancet.

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• Image from work by Yuanyuan Li and Wenyan Xu, and colleagues
• Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in eLife, March 2023