Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome

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—<i>FMR1</i> mRNA, <i>CYFIP1</i> mRNA, MMP9 and FMRP protein e...

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Bibliographic Details
Main Authors: Ramkumar Aishworiya, Mei-Hung Chi, Marwa Zafarullah, Guadalupe Mendoza, Matthew Dominic Ponzini, Kyoungmi Kim, Hazel Maridith Barlahan Biag, Angela John Thurman, Leonard Abbeduto, David Hessl, Jamie Leah Randol, Francois V. Bolduc, Sebastien Jacquemont, Sarah Lippé, Paul Hagerman, Randi Hagerman, Andrea Schneider, Flora Tassone
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Cells
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Online Access:https://www.mdpi.com/2073-4409/12/14/1920
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Summary: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—<i>FMR1</i> mRNA, <i>CYFIP1</i> 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. <i>FMR1</i> 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, <i>CYFIP1</i> mRNA with mood and autistic symptoms, and <i>FMR1</i> 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.
ISSN:2073-4409