Scientists get a new tool to study a common genetic heart condition

• The six cell line collections developed by the Allen Institute allow researchers to look at the impact of different mutations associated with the disease at the molecular and cellular level — before symptoms appear. That could ultimately lead to the development of more effective treatments for HCM.
• One challenge in studying the disease is the mutations in the genes associated with HCM give rise to different symptoms in people.

How it works: The cell lines use adult skin cells reprogrammed to become their predecessor stem cells.

• Five mutations associated with HCM were introduced to the cells using CRISPR-based gene editing. The mutations produce changes in the protein myosin, which plays a role in heart muscle contraction.
• Fluorescent tags were also added to the cells, allowing researchers to see their major structures.
• The cells were then grown into cardiac muscle cells and used to study how the disease affects the heart.

"This is the beginning of a different era in human health, where the scalpels and implements of surgery have become molecular," Brock Roberts, a scientist at the institute, said in a press release.

• "We're still quite a ways from regularly doing that in patients, but this was an exciting opportunity to get into the early stages of research in a human cell."

The big picture: "The most exciting thing is you can follow initiation and progression of a change over time, whether that's in a normal situation or an abnormal situation," said Ru Gunawardane, executive director of the institute.

• "[Y]ou can find when during this process, do things start to go wrong before it's just too late," she said.
• "Most of the time you have tissues from patients who have died or had a heart attack," she said, making it hard to know what exactly happened.

What to watch: The development of the cell line collection — which took five years with gaps in progress due to COVID — is a collaboration with researchers at the University of Washington, Stanford University and the University of California, Santa Barbara.

• They've already used the cells to study a specific mutation's impact at different biological levels.