New insights into fragile X syndrome and the fetal brain

New insights into fragile X syndrome and the fetal brain
An illustration showing the symptoms of fragile X syndrome. Credit: Tohoku University Graduate School of Medicine

Researchers at Tohoku University have revealed further insight into the fetal development of our brain and the potential causes of fragile X syndrome (FSX).

During , the fetal period is vital in creating neurons from neural stem cells to build up a functional adult . Any impairment in the developmental program could result in severe defects in the brain.

FSX is a characterized by intellectual disability and autistic symptoms. Children with FSX will generally suffer from developmental delays as well as social and behavioral problems.

FSX patients have a defect in the fragile X 1 (FMR1) gene, a gene that codes for the fragile X mental retardation protein (FNRP)—the critical factor in normal brain development.

"Our study illustrated the possible molecular mechanism that causes FXS in the fetal brain and furthers our understanding of hereditary developmental disorders in the brain's developmental stage," said Noriko Osumi, professor at the Department of Developmental Neuroscience, Tohoku University Graduate School of Medicine.

Using next-generation sequencing, Osumi and her team identified hundreds of FMRP regulated molecules in mice fetal brains. These molecules were associated not only with neurogenesis but also autism and intellectual disability.

Their findings showed that specific groups of molecules were involved in the intracellular signaling pathways such as Ras/MAPK, Wnt/β-catenin, and mTOR.

The mTOR activity was significant in the fetal brain of FMR1 deficient mice, suggesting that increased mTOR activity may lead to abnormal proliferation and differentiation of in the fetal brain. Ultimately, these could be responsible for developing the brain during the fetal period and contribute to the causes of FXS.

The research team hopes this new information will serve as an essential resource for future studies of neurodevelopmental disorders.

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More information: Cristine R. Casingal et al. Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis, Molecular Brain (2020). DOI: 10.1186/s13041-020-00706-1
Provided by Tohoku University
Citation: New insights into fragile X syndrome and the fetal brain (2020, December 16) retrieved 2 July 2022 from
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