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

• Published in: Cells (Basel, Switzerland) Vol. 12; no. 14; p. 1920
• Main Authors: Aishworiya, Ramkumar, Chi, Mei-Hung, Zafarullah, Marwa, Mendoza, Guadalupe, Ponzini, Matthew Dominic, Kim, Kyoungmi, Biag, Hazel Maridith Barlahan, Thurman, Angela John, Abbeduto, Leonard, Hessl, David, Randol, Jamie Leah, Bolduc, Francois V, Jacquemont, Sebastien, Lippé, Sarah, Hagerman, Paul, Hagerman, Randi, Schneider, Andrea, Tassone, Flora
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.07.2023; MDPI
• Subjects: Analysis; Anxiety; Autism; Behavior; Biological markers; Biomarkers; Body mass index; Care and treatment; Caregivers; clinical trial; Clinical trials; Cognition & reasoning; Cognitive ability; Communication; Diagnosis; DNA methylation; Executive function; FMR1 mRNA; FMR1 protein; FMRP; Fragile X Mental Retardation Protein - genetics; Fragile X Mental Retardation Protein - metabolism; Fragile X syndrome; Fragile X Syndrome - diagnosis; Fragile X Syndrome - genetics; Gelatinase B; Gene expression; Genetic aspects; Genotype & phenotype; Humans; Intellectual disabilities; Kinases; Language; MMP9; outcome measures; Phenotype; Phenotypes; Proteins; RNA, Messenger - metabolism; Skills; Standard scores; United States; clinical trial; FMR1 mRNA; FMRP; outcome measures; MMP9; fragile X syndrome
• ISSN: 2073-4409; 2073-4409
• 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.