Targeting Mitochondria in Human Fragile X Syndrome Neurons

$90,000 FRAXA Research Grant for 2019

FRAXA Research Foundation has awarded a $90,000 research grant to principal investigator Dr. Xinyu Zhao and postdoctoral fellow Dr. Minjie Shen at the University of Wisconsin. They are investigating whether drugs which boost mitochondria — which provide the energy for cells — could treat Fragile X syndrome.

Dr. Zhao explains in this video.

Xinyu Zhao, PhD
Principal Investigator

Minjie Shen, PhD
FRAXA Postdoctoral Fellow

Total Funding to the University of Wisconsin to Date: $975,000

University of Wisconsin

Mitochondria are powerhouses that generates energy inside each cell. Neurons need a lot of energy during their development as well as when they perform daily functions. Work from the Dr. Xinyu Zhao’s lab and many other labs has shown that neurons in Fragile X mice do not develop normally. However the reasons are not fully clear.

Recently, Dr. Minjie Shen in Dr. Zhao’s lab found that mouse Fragile X neurons have smaller mitochondria which do not work as well as they should. When they treated Fragile X mice with mitochondria-enhancing compounds, they were able to correct some of the behavioral deficits seen in these mice and also in Fragile X patients. These data suggest that mitochondria might be a potential new treatment target for Fragile X syndrome.

The team believes that the next key step is to extend these findings to humans. In this project, Dr. Shen will determine whether human Fragile X neurons exhibit mitochondrial impairment and whether mitochondria-enhancing compounds can correct neuronal development deficits of these neurons. This project will be carried out under the guidance of Dr. Xinyu Zhao and in collaboration with Dr. Anita Bhattacharyya and Dr. Shaoqin Gong, all at the University of Wisconsin-Madison.

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