| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Cells, Vol 12, Iss 14, p 1920 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2073-4409 |
| DOI: |
10.3390/cells12141920 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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