<i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development
Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed that substantial repeat expansion of the 5′ e...
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2024-12-01
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| Online Access: | https://www.mdpi.com/2073-4409/13/24/2100 |
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| author | Drew A. Gillett Helene Tigro Yuan Wang Zucai Suo |
| author_facet | Drew A. Gillett Helene Tigro Yuan Wang Zucai Suo |
| author_sort | Drew A. Gillett |
| collection | DOAJ |
| description | Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed that substantial repeat expansion of the 5′ end of the gene fragile X messenger ribonucleoprotein 1 (<i>FMR1</i>) promoted DNA methylation and, consequently, silenced expression of <i>FMR1</i>. Further analysis proved that shorter repeat expansions in <i>FMR1</i> also manifested in disease at later stages in life. Treatment and therapy options do exist, but they only manage symptoms. Up to now, no cure for <i>FMR1</i> disorders exists. In this review, we aim to provide an overview of <i>FMR1</i> biology and the latest research focused on developing therapeutic interventions that can potentially prevent and/or reverse FXS. |
| format | Article |
| id | doaj-art-a344a1e58a694e17ac2a66aa920e70c5 |
| institution | Kabale University |
| issn | 2073-4409 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj-art-a344a1e58a694e17ac2a66aa920e70c52024-12-27T14:16:35ZengMDPI AGCells2073-44092024-12-011324210010.3390/cells13242100<i>FMR1</i> Disorders: Basics of Biology and Therapeutics in DevelopmentDrew A. Gillett0Helene Tigro1Yuan Wang2Zucai Suo3Department of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL 32306, USADepartment of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL 32306, USADepartment of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL 32306, USADepartment of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL 32306, USAFragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed that substantial repeat expansion of the 5′ end of the gene fragile X messenger ribonucleoprotein 1 (<i>FMR1</i>) promoted DNA methylation and, consequently, silenced expression of <i>FMR1</i>. Further analysis proved that shorter repeat expansions in <i>FMR1</i> also manifested in disease at later stages in life. Treatment and therapy options do exist, but they only manage symptoms. Up to now, no cure for <i>FMR1</i> disorders exists. In this review, we aim to provide an overview of <i>FMR1</i> biology and the latest research focused on developing therapeutic interventions that can potentially prevent and/or reverse FXS.https://www.mdpi.com/2073-4409/13/24/2100fragile X syndromefragile X messenger ribonucleoprotein 1<i>FMR1</i>fragile X messenger ribonucleoproteinFMRPneuronal development |
| spellingShingle | Drew A. Gillett Helene Tigro Yuan Wang Zucai Suo <i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development Cells fragile X syndrome fragile X messenger ribonucleoprotein 1 <i>FMR1</i> fragile X messenger ribonucleoprotein FMRP neuronal development |
| title | <i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development |
| title_full | <i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development |
| title_fullStr | <i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development |
| title_full_unstemmed | <i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development |
| title_short | <i>FMR1</i> Disorders: Basics of Biology and Therapeutics in Development |
| title_sort | i fmr1 i disorders basics of biology and therapeutics in development |
| topic | fragile X syndrome fragile X messenger ribonucleoprotein 1 <i>FMR1</i> fragile X messenger ribonucleoprotein FMRP neuronal development |
| url | https://www.mdpi.com/2073-4409/13/24/2100 |
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