Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome
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
Affiliations
Ramkumar Aishworiya
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Mei-Hung Chi
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Marwa Zafarullah
Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA
Guadalupe Mendoza
Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA
Matthew Dominic Ponzini
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Kyoungmi Kim
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Hazel Maridith Barlahan Biag
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Angela John Thurman
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Leonard Abbeduto
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
David Hessl
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Jamie Leah Randol
Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA
Francois V. Bolduc
Department of Pediatrics, Department of Medical Genetics, Women and Children Health Research Institute, University of Alberta, Edmonton, AB T6G 2R3, Canada
Sebastien Jacquemont
CHU Sainte-Justine Research Center, Université de Montréal, Montreal, QC H3T 1J4, Canada
Sarah Lippé
CHU Sainte-Justine Research Center, Université de Montréal, Montreal, QC H3T 1J4, Canada
Paul Hagerman
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Randi Hagerman
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Andrea Schneider
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Flora Tassone
MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
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—FMR1 mRNA, CYFIP1 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. FMR1 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, CYFIP1 mRNA with mood and autistic symptoms, and FMR1 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.