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Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

Monday, January 25, 2021

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.

Through a series of cellular analyses, Maquat’s team discovered that NMD influences a wide range of genes throughout the brain, including genes that govern motor control and cognitive processes related to attention, learning and language. They also found that when FMRP is absent from cells, as it is in people with fragile X syndrome, nonsense-mediated mRNA decay shifts into overdrive.

Read More: Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

Alan Grossfield Featured in Biophysical Society Profile

Monday, January 11, 2021


Biochemistry and Biophysics Professor Alan Grossfield was recently featured in a two-page profile piece in the January 2021 Biophysical Society Bulletin. The article details how Dr. Grossfield developed an interest in science and progress from an undergraduate biology major to ultimately making a career in computational studies of biological systems. The entire article can be found here: