ANN ARBOR, Mich. — Amyotrophic lateral sclerosis, or ALS, afflicts the body’s nerve cells. The rare but devastating disease leads to progressive muscle weakness that can eventually disrupt a person’s ability to walk, talk and even breathe. About a third of people with ALS also have profound changes in their personality due to the destruction of neurons in the brain, developing what is known as frontotemporal dementia, or FTD. In 2006, scientists discovered a crucial link: Most patients with ALS and FTD had deposits of a protein called TDP-43 in the wrong location in their cells.
Research investigators at the University of Michigan Department of Neurology have since set out to pinpoint what this protein was doing to prompt these severe conditions. Their findings, published in the journal Nature Communications, point to a mishap in the regulation of RNA.
“This important study is an example of teamwork among ALS scientists,” said Dr. Eva Feldman, the Russell N. DeJong Professor of Neurology and Director of the University of Michigan Program for Neurology Research & Discovery. “Combining the strengths of the scientists in Dr. Sami Barmada’s laboratory with the scientists from our Program, including Drs. Claudia Figuero-Romero, Lucy Hinder, Kai Guo, Junguk Hur and our senior research associate, Ms. Crystal Pacut, has led to this increased understanding of how defective proteins cause neurodegenerative diseases, including ALS and a form of dementia, known as frontotemporal dementia. We now have new therapeutic targets for treating diseases—we are very excited!”
