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- mRNA, mRNA, MMP9 and FMRP protein expression levels, nonverbal IQ, body mass index a...

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Published in:Cells (Basel, Switzerland) Switzerland), 2023-07, Vol.12 (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: Article
Language:English
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
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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- 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.
ISSN:2073-4409
2073-4409
DOI:10.3390/cells12141920