Zhao Lab Finds that Fragile X Syndrome Begins Before Birth

Xinyu Zhao
Dr. Xinyu Zhao

Dr. Xinyu Zhao, Professor of Neuroscience, and four postdoctoral fellows in her lab – Minjie Shen, Carissa Sirois, Yu (Kristy) Guo, and Meng Li – have found that FMRP, a protein deficient in individuals with fragile X syndrome, has a role in the function of mitochondria. Using a drug to enhance mitochondrial function, they were able to rescue brain cells damaged by lack of FMRP.

For the study, researchers grew brain cells called neurons grown from induced pluripotent stem cells. Because the stem cells came from people with FXS, the researchers could study the development of the disorder at a cellular level, determining whether mitochondria in human cells experienced issues similar to those in mice.

Symptoms of FXS present long after the baby is born. Many babies appear to be developing typically before showing slower development, autistic features or developmental deficits. Children with FXS are typically diagnosed at three years of age or older.

Zhao’s lab found that the gene’s role in prenatal development is greater than scientists originally thought.

“This means that FMRP has a function in prenatal development that we have not really thought about before,” Zhao says. “The fact that we found that FMRP also regulates prenatal development is really interesting and is actually indicating that what we see in fragile X syndrome, some of the effects already happened within the prenatal development.”

For more information and the full article, please visit the following link: https://news.wisc.edu/discovery-reveals-fragile-x-syndrome-begins-developing-even-before-birth/