• By Lynda De Widt

Science Saturday: Link found between key gene and two neurodegenerative diseases

June 11, 2022

Gene expression can amplify the risk of neurodegenerative diseases for patients, but researchers are still figuring out which genes have an outsized effect on risk and why. In a new paper published in Nature, Mayo Clinic researchers and collaborators have zeroed in on variants of one gene critical for nerve cell function that ups the ante for patients with Lou Gehrig's Disease, also known as amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD).

"This finding helps clarify a new direction for biomarker research and provides a therapeutic target for ALS and FTD research," says Yuka Koike, M.D., Ph.D., a Mayo neuroscience fellow, and one of the lead researchers in the study.

In the nucleus of brain neurons, the protein TDP-43 helps prepare RNA “instructions” used to make proteins that cells need for proper functioning. TDP-43 is like a copyeditor, looking for typos in a block of text. Without it, messenger RNA contains errors that lead to faulty protein assembly and, potentially, to disease. For example, without TDP-43, a messenger RNA “typo” is linked to sporadic and inherited cases of ALS.

Researchers from Mayo Clinic, Stanford University School of Medicine, and other collaborating institutions wondered if there were more examples of typos that TDP-43 corrected.

Read the rest of the article on the Discovery's Edge blog.

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