Soraya O Sandoval, Natasha M Méndez-Albelo, Zhiyan Xu, Xinyu Zhao
{"title":"从翅膀、胡须到干细胞：为什么脆性 X 综合征研究中每个模型都很重要？","authors":"Soraya O Sandoval, Natasha M Méndez-Albelo, Zhiyan Xu, Xinyu Zhao","doi":"10.1186/s11689-024-09545-w","DOIUrl":null,"url":null,"abstract":"<p><p>Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"16 1","pages":"30"},"PeriodicalIF":4.1000,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11177515/pdf/","citationCount":"0","resultStr":"{\"title\":\"From wings to whiskers to stem cells: why every model matters in fragile X syndrome research.\",\"authors\":\"Soraya O Sandoval, Natasha M Méndez-Albelo, Zhiyan Xu, Xinyu Zhao\",\"doi\":\"10.1186/s11689-024-09545-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.</p>\",\"PeriodicalId\":16530,\"journal\":{\"name\":\"Journal of Neurodevelopmental Disorders\",\"volume\":\"16 1\",\"pages\":\"30\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2024-06-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11177515/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neurodevelopmental Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s11689-024-09545-w\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neurodevelopmental Disorders","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s11689-024-09545-w","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
脆性 X 综合征（FXS）是由于位于染色体 Xq27.3 上的 X 连锁脆性 X 信使核糖核蛋白 1（FMR1）基因发生表观遗传沉默，导致其蛋白产物脆性 X 信使核糖核蛋白（FMRP）缺失而引起的。它是最常见的遗传性智力残疾，也是自闭症的最高单基因病因。自发现 FXS 的遗传基础以来，利用动物模型和人类多能干细胞进行的大量研究揭示了 FMRP 的功能和 FXS 的发病机制。然而，临床试验并未取得成功的治疗效果。在此，我们回顾了我们从常用的 FXS 模型中学到的知识、这些模型的潜在局限性以及对未来步骤的建议。
From wings to whiskers to stem cells: why every model matters in fragile X syndrome research.
Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.
期刊介绍：
Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
