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Proteins linked - discovery brings new hope to ALS research

October 09, 2006

An article published in the September 29th journal titled Science confirms a long suspected link between Lou Gehrig's disease (ALS) and frontotemporal dementia (FTD).

The international team led by the Penn scientist is the first to identify the key protein for ALS and the most common type seen in FTD.

The protein is called TDP-43. Its exact role in not well understood. But the protein normally is part of a process that transcribes and regulates genetic information in the cell nucleus. It is found in cells throughout the body and is also known to support a protein involved in regulating nerve cells linked to movement.

Virginia Lee is the director for the Center for Neurodegenerative Disease Research at the University of Pennsylvania and co-author of the study, she said, "Clinically, there's overlap in these two disorders, so it was very tantalizing to see if there was anything to link them biochemically."

To find the protein, researchers first made antibodies to the misfolded protein common to human tissue samples involving both disorders. Then they injected an extract containing the protein into lab mice so they could develop antibodies that recognize the protein.

The scientists then applied the antibodies against the protein in brain-tissue samples from the mice and found that all 72 cases involving both diseases had misfolded TDP-43.

There's still much to learn about how the protein is clumped into cells before the new knowledge can be applied toward finding a treatment in people. However, "this exciting basic science discovery will advance understanding of the pathological processes of FTD and ALS, and possibly other neurological disorders," said Dr. Richard Hodes, director of the National Institute on Aging, which sponsored the study.