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Advanced imaging and theoretical physics unlock clues to new treatments for muscular dystrophy

genetic disorder
Credit: Pixabay/CC0 Public Domain

A new discovery about how tiny protein clusters form in cells could pave the way for treatments for Emery-Dreifuss muscular dystrophy (EDMD), a rare genetic disorder that causes muscle weakness and heart problems.

Researchers at the USC Dornsife College of Letters, Arts and Sciences combined advanced imaging techniques and to observe and explain how nanoclusters of the protein emerin form inside living cells.

These clusters—about 100,000 times smaller than a human hair's width—play a crucial role in how cells sense and respond to mechanical forces like stretching or pressure, a process known as mechanotransduction. When this process fails, it can contribute to diseases like muscular dystrophy.

The study, published in , uncovers the molecular "rules" driving the arrangement of emerin into nanoclusters and the mechanisms leading to their defective assembly in people with EDMD.

By identifying the physical principles behind those defects and why they disrupt mechanotransduction and trigger disease symptoms, scientists hope to develop new strategies to correct them.

Fascinatingly, the researchers, led by Christoph Haselwandter, professor of physics and astronomy and quantitative and , and Fabien Pinaud, associate professor of biological sciences and physics and , applied principles first proposed by Alan Turing—the famed WWII codebreaker and computing pioneer—to understand how these nanoclusters form.

Turing's work on pattern formation in nature (such as zebra stripes and leopard spots) revealed mathematical rules that also appear to govern protein assembly at a nanoscale level.

"This research opens up exciting possibilities," said study first author Carlos Alas, who earned his physics Ph.D. in 2023 from USC Dornsife. "By applying physics-based approaches, we can start thinking about ways to correct these defects and potentially help people with this debilitating disease."

While the findings focus on , understanding how proteins like emerin function could also lead to breakthroughs in other diseases linked to cellular mechanics.

More information: Carlos D. Alas et al, Diffusion-driven self-assembly of emerin nanodomains at the nuclear envelope, Âé¶¹ÒùÔºical Review Research (2025).

Citation: Advanced imaging and theoretical physics unlock clues to new treatments for muscular dystrophy (2025, March 6) retrieved 26 April 2025 from /news/2025-03-advanced-imaging-theoretical-physics-clues.html
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