Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells
- lindsayvicars
- Jan 25, 2021
- 1 min read
Updated: Apr 2
From the University of Rochester Medical Center Newsroom:
A new study shows that many abnormalities in fragile X syndrome cells are related to glitches with one of the body’s major quality control systems. Published in Nature Cell Biology, the research provides fresh insight into the molecular mechanisms of the disorder and a pathway to search for potential treatments.
Fragile X syndrome occurs when individuals don’t make the fragile X protein known as FMRP, which is needed for normal brain development. Currently, little is known about how the loss of this crucial protein leads to the intellectual disability and severe learning problems characteristic of the disease.
Rochester researchers found that many irregularities in cells that lack FMRP are due to misregulated nonsense-mediated mRNA decay, or NMD. Discovered by RNA biologist Lynne E. Maquat, Ph.D., NMD is like a molecular guide that helps our cells make smart decisions that (in most cases) improve cellular function and contribute to good health. For example, NMD helps our cells adjust to changes in development and in their environment, and more rapidly respond to certain stimuli. (click here to keep reading)
Author: Emily Boynton
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