MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.
Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore 119074, Singapore.
Cells. 2023 Jul 24;12(14):1920. doi: 10.3390/cells12141920.
This study contributes to a greater understanding of the utility of molecular biomarkers to identify clinical phenotypes of fragile X syndrome (FXS). Correlations of baseline clinical trial data (molecular measures- mRNA, mRNA, MMP9 and FMRP protein expression levels, nonverbal IQ, body mass index and weight, language level, NIH Toolbox, adaptive behavior rating, autism, and other mental health correlates) of 59 participants with FXS ages of 6-32 years are reported. mRNA expression levels correlated positively with adaptive functioning levels, expressive language, and specific NIH Toolbox measures. The findings of a positive correlation of MMP-9 levels with obesity, mRNA with mood and autistic symptoms, and mRNA expression level with better cognitive, language, and adaptive functions indicate potential biomarkers for specific FXS phenotypes. These may be potential markers for future clinical trials for targeted treatments of FXS.
本研究有助于更好地理解分子生物标志物在鉴定脆性 X 综合征 (FXS) 临床表型中的效用。报告了 59 名 6-32 岁 FXS 患者的基线临床试验数据（分子指标——mRNA、miR-212、MMP9 和 FMRP 蛋白表达水平、非言语智商、体重指数和体重、语言水平、NIH 工具包、适应行为评定、自闭症和其他心理健康相关指标）的相关性。mRNA 表达水平与适应功能水平、表达性语言和特定 NIH 工具包测量呈正相关。MMP-9 水平与肥胖呈正相关、miR-212 与情绪和自闭症症状呈正相关、mRNA 与更好的认知、语言和适应功能呈正相关的发现，表明了特定 FXS 表型的潜在生物标志物。这些可能是未来 FXS 靶向治疗临床试验的潜在标志物。
