한빛사
>
한빛사논문
한빛사논문
- 조회195
Proc. Natl. Acad. Sci. USA, Jul 30 2024, 121 (31) | https://doi.org/10.1073/pnas.2407546121
Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology
Jung-Hyun Choi1, Laura Marsal-García1, Eve Peraldi, Caleb Walters, Ziying Huang, Ilse Gantois, and Nahum Sonenberg2
Department of Biochemistry, Goodman Cancer Institute, McGill University, Montreal, QC H3A 1A3, Canada
1J.-H.C. and L.M.-G. contributed equally to this work.
2To whom correspondence may be addressed. : Nahum Sonenberg
Abstract
Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder engendered by transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (
FMR1) gene. Given the early onset of behavioral and molecular changes, it is imperative to know the optimal timing for therapeutic intervention. Case reports documented benefits of metformin treatment in FXS children between 2 and 14 y old. In this study, we administered metformin from birth to
Fmr1-/y mice which corrected up-regulated mitogen-2 activated protein kinase/extracellular signal-regulated kinase and mammalian/mechanistic target of rapamycin complex 1 signaling pathways and specific synaptic mRNA-binding targets of FMRP. Metformin rescued increased number of calls in ultrasonic vocalization and repetitive behavior in
Fmr1-/y mice. Our findings demonstrate that in mice, early-in-life metformin intervention is effective in treating FXS pathophysiology.
논문정보
- Research article
- 2024년 07월 (BRIC 등록일 2024-07-24)
- 국외 연구진
댓글 작성 로그인
팝업 닫기관련 링크
