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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| Format: | Article |
| Language: | English |
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MDPI AG
2023-07-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/12/14/1920 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Ramkumar Aishworiya |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T01:11:19Z |
| format | Article |
| id | doaj.art-0b6bc6c22d6f4eb0a59930c3348fbf5b |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-11T01:11:19Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-0b6bc6c22d6f4eb0a59930c3348fbf5b2023-11-18T18:47:04ZengMDPI AGCells2073-44092023-07-011214192010.3390/cells12141920Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X SyndromeRamkumar Aishworiya0Mei-Hung Chi1Marwa Zafarullah2Guadalupe Mendoza3Matthew Dominic Ponzini4Kyoungmi Kim5Hazel Maridith Barlahan Biag6Angela John Thurman7Leonard Abbeduto8David Hessl9Jamie Leah Randol10Francois V. Bolduc11Sebastien Jacquemont12Sarah Lippé13Paul Hagerman14Randi Hagerman15Andrea Schneider16Flora Tassone17MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USADepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USADepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USADepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USADepartment of Pediatrics, Department of Medical Genetics, Women and Children Health Research Institute, University of Alberta, Edmonton, AB T6G 2R3, CanadaCHU Sainte-Justine Research Center, Université de Montréal, Montreal, QC H3T 1J4, CanadaCHU Sainte-Justine Research Center, Université de Montréal, Montreal, QC H3T 1J4, CanadaMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAMIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USAThis 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.https://www.mdpi.com/2073-4409/12/14/1920fragile X syndrome<i>FMR1</i> mRNAMMP9FMRPclinical trialoutcome measures |
| spellingShingle | 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 Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome Cells fragile X syndrome <i>FMR1</i> mRNA MMP9 FMRP clinical trial outcome measures |
| title | Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome |
| title_full | Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome |
| title_fullStr | Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome |
| title_full_unstemmed | Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome |
| title_short | Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome |
| title_sort | intercorrelation of molecular biomarkers and clinical phenotype measures in fragile x syndrome |
| topic | fragile X syndrome <i>FMR1</i> mRNA MMP9 FMRP clinical trial outcome measures |
| url | https://www.mdpi.com/2073-4409/12/14/1920 |
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