An “Omic” Overview of Fragile X Syndrome
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its encoded protein, FMRP (fragile X mental retard...
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| Format: | Article |
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MDPI AG
2021-05-01
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| Series: | Biology |
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| Online Access: | https://www.mdpi.com/2079-7737/10/5/433 |
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| author | Olivier Dionne François Corbin |
| author_facet | Olivier Dionne François Corbin |
| author_sort | Olivier Dionne |
| collection | DOAJ |
| description | Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its encoded protein, FMRP (fragile X mental retardation protein). FMRP is a ubiquitously expressed and multifunctional RNA-binding protein, primarily considered as a translational regulator. Pre-clinical studies of the past two decades have therefore focused on this function to relate FMRP’s absence to the molecular mechanisms underlying FXS physiopathology. Based on these data, successful pharmacological strategies were developed to rescue fragile X phenotype in animal models. Unfortunately, these results did not translate into humans as clinical trials using same therapeutic approaches did not reach the expected outcomes. These failures highlight the need to put into perspective the different functions of FMRP in order to get a more comprehensive understanding of FXS pathophysiology. This work presents a review of FMRP’s involvement on noteworthy molecular mechanisms that may ultimately contribute to various biochemical alterations composing the fragile X phenotype. |
| first_indexed | 2024-03-10T11:26:53Z |
| format | Article |
| id | doaj.art-74966cc9c8b6492da424fba2cf9d1e1f |
| institution | Directory Open Access Journal |
| issn | 2079-7737 |
| language | English |
| last_indexed | 2024-03-10T11:26:53Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biology |
| spelling | doaj.art-74966cc9c8b6492da424fba2cf9d1e1f2023-11-21T19:35:39ZengMDPI AGBiology2079-77372021-05-0110543310.3390/biology10050433An “Omic” Overview of Fragile X SyndromeOlivier Dionne0François Corbin1Department of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke and Centre de Recherche du CHUS, CIUSSS de l’Estrie-CHUS, Sherbrooke, QC J1H 5H4, CanadaDepartment of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke and Centre de Recherche du CHUS, CIUSSS de l’Estrie-CHUS, Sherbrooke, QC J1H 5H4, CanadaFragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its encoded protein, FMRP (fragile X mental retardation protein). FMRP is a ubiquitously expressed and multifunctional RNA-binding protein, primarily considered as a translational regulator. Pre-clinical studies of the past two decades have therefore focused on this function to relate FMRP’s absence to the molecular mechanisms underlying FXS physiopathology. Based on these data, successful pharmacological strategies were developed to rescue fragile X phenotype in animal models. Unfortunately, these results did not translate into humans as clinical trials using same therapeutic approaches did not reach the expected outcomes. These failures highlight the need to put into perspective the different functions of FMRP in order to get a more comprehensive understanding of FXS pathophysiology. This work presents a review of FMRP’s involvement on noteworthy molecular mechanisms that may ultimately contribute to various biochemical alterations composing the fragile X phenotype.https://www.mdpi.com/2079-7737/10/5/433fragile X syndromeFMRPRNA-binding proteinphysiopathologygenomictranscriptomic |
| spellingShingle | Olivier Dionne François Corbin An “Omic” Overview of Fragile X Syndrome Biology fragile X syndrome FMRP RNA-binding protein physiopathology genomic transcriptomic |
| title | An “Omic” Overview of Fragile X Syndrome |
| title_full | An “Omic” Overview of Fragile X Syndrome |
| title_fullStr | An “Omic” Overview of Fragile X Syndrome |
| title_full_unstemmed | An “Omic” Overview of Fragile X Syndrome |
| title_short | An “Omic” Overview of Fragile X Syndrome |
| title_sort | omic overview of fragile x syndrome |
| topic | fragile X syndrome FMRP RNA-binding protein physiopathology genomic transcriptomic |
| url | https://www.mdpi.com/2079-7737/10/5/433 |
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