脆性X前突变：药物治疗、疗法及生活方式建议
Fragile X Premutation: Medications, Therapy and Lifestyle Advice.
作者信息
Sodhi Deepika Kour, Hagerman Randi
机构信息
The MIND Institute, University of California Davis Health, Sacramento, CA, USA.
Department of Pediatrics, University of California Davis Health, Sacramento, CA, USA.
出版信息
Pharmgenomics Pers Med. 2021 Dec 29;14:1689-1699. doi: 10.2147/PGPM.S338846. eCollection 2021.
Abstract
The fragile X premutation is characterized by 55-200 CGG repeats in the 5' untranslated region of whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation spectrum of clinical involvement includes fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). In addition, premutation carriers also suffer from various other health problems such as endocrine abnormalities and autoimmune problems. In this paper, we have discussed different health issues faced by the carriers and interventions including medications, therapy and lifestyle changes that could improve their health.
摘要
脆性X前突变的特征是在其5'非翻译区有55 - 200个CGG重复序列，而完全脆性X突变则有超过200个重复序列且完全甲基化，表现为脆性X综合征（FXS）。临床受累的前突变谱包括脆性X相关震颤/共济失调综合征（FXTAS）、脆性X相关原发性卵巢功能不全（FXPOI）以及脆性X相关神经精神障碍（FXAND）。此外，前突变携带者还患有各种其他健康问题，如内分泌异常和自身免疫问题。在本文中，我们讨论了携带者面临的不同健康问题以及包括药物治疗、疗法和生活方式改变等在内的干预措施，这些措施可能改善他们的健康状况。
相似文献
1
Fragile X Premutation: Medications, Therapy and Lifestyle Advice.脆性X前突变：药物治疗、疗法及生活方式建议
Pharmgenomics Pers Med. 2021 Dec 29;14:1689-1699. doi: 10.2147/PGPM.S338846. eCollection 2021.
3
[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?].[脆性X智力低下1号基因前突变携带者——他们真的没有症状吗？]
Harefuah. 2018 Apr;157(4):241-244.
4
Fragile X-Associated Neuropsychiatric Disorders (FXAND).脆性X染色体相关神经精神障碍（FXAND）
Front Psychiatry. 2018 Nov 13;9:564. doi: 10.3389/fpsyt.2018.00564. eCollection 2018.
5
Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).了解FMR1前突变女性携带者生育力下降的原因：脆性X相关原发性卵巢功能不全（FXPOI）的一种可能机制。
Reprod Health. 2014 Aug 19;11:67. doi: 10.1186/1742-4755-11-67.
6
Fragile X- associated Neuropsychiatric Disorders: A Case Report.脆性X染色体相关神经精神障碍：一例报告
Future Neurol. 2019 May;14(2). doi: 10.2217/fnl-2018-0040. Epub 2019 May 24.
7
Fragile X spectrum disorders.脆性X染色体谱系障碍
Intractable Rare Dis Res. 2014 Nov;3(4):134-46. doi: 10.5582/irdr.2014.01022.
8
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.脆性 X 前突变相关疾病第五届国际会议的见解和建议。
Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330.
9
Fragile X syndrome and fragile X-associated tremor ataxia syndrome.脆性X综合征和脆性X相关震颤共济失调综合征。
Handb Clin Neurol. 2018;147:377-391. doi: 10.1016/B978-0-444-63233-3.00025-7.
10
Unstable mutations in the FMR1 gene and the phenotypes.FMR1 基因突变与表型。
Adv Exp Med Biol. 2012;769:78-114. doi: 10.1007/978-1-4614-5434-2_6.
引用本文的文献
1
Premutation Females with preFXTAS.患有前脆性X震颤性共济失调综合征（preFXTAS）的前突变女性
Int J Mol Sci. 2025 Mar 20;26(6):2825. doi: 10.3390/ijms26062825.
2
CRISPR tiling deletion screens reveal functional enhancers of neuropsychiatric risk genes and allelic compensation effects (ACE) on transcription.CRISPR平铺缺失筛选揭示了神经精神风险基因的功能增强子以及转录上的等位基因补偿效应（ACE）。
bioRxiv. 2024 Oct 10:2024.10.08.616922. doi: 10.1101/2024.10.08.616922.
3
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.脆性 X 综合征和 FMR1 前突变：意大利相关疾病和治疗重点调查结果。
Orphanet J Rare Dis. 2024 Jul 12;19(1):264. doi: 10.1186/s13023-024-03272-0.
4
A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.脆性 X 综合征与脆性 X 前突变相关疾病在非洲的综合综述
Genes (Basel). 2024 May 25;15(6):683. doi: 10.3390/genes15060683.
5
Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients.脆性 X 综合征和脆性 X 相关震颤/共济失调综合征中的线粒体功能障碍：抗氧化剂和线粒体营养素的潜在应用。
Mol Biol Rep. 2024 Apr 5;51(1):480. doi: 10.1007/s11033-024-09415-7.
6
Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.未甲基化镶嵌型全突变男性，不伴有脆性 X 综合征。
Genes (Basel). 2024 Mar 3;15(3):331. doi: 10.3390/genes15030331.
7
Case Series: Vestibular Migraines in Fragile X Premutation Carriers.病例系列：脆性X前突变携带者的前庭性偏头痛
J Clin Med. 2024 Jan 16;13(2):504. doi: 10.3390/jcm13020504.
8
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.脆性 X 前突变相关疾病第五届国际会议的见解和建议。
Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330.
9
Activation Ratio Correlates with IQ in Female Carriers of the Premutation.脆性 X 前突变携带者的激活率与智商相关。
Cells. 2023 Jun 24;12(13):1711. doi: 10.3390/cells12131711.
10
A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome.一种敏感且可重现的 qRT-PCR 检测法可在脆性 X 综合征个体中检测到生理相关的痕量 FMR1 mRNA。
Sci Rep. 2023 Mar 7;13(1):3808. doi: 10.1038/s41598-023-29786-4.
本文引用的文献
1
Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy.sigma-1 受体激动剂 blarcamesine 在脆性 X 综合征小鼠模型中的作用：神经行为表型和受体占有率。
Sci Rep. 2021 Aug 25;11(1):17150. doi: 10.1038/s41598-021-94079-7.
2
PARIS farnesylation prevents neurodegeneration in models of Parkinson's disease.巴黎法呢基化可预防帕金森病模型中的神经退行性变。
Sci Transl Med. 2021 Jul 28;13(604). doi: 10.1126/scitranslmed.aax8891.
3
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.脆性 X 前突变携带者的高活动度埃勒斯-当洛斯综合征（hEDS）表型：病例系列。
J Med Genet. 2022 Jul;59(7):687-690. doi: 10.1136/jmedgenet-2020-107609. Epub 2021 Jun 30.
4
Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome.萝卜硫素可改善脆性 X 相关震颤共济失调综合征患者成纤维细胞中线粒体代谢。
Neurobiol Dis. 2021 Sep;157:105427. doi: 10.1016/j.nbd.2021.105427. Epub 2021 Jun 19.
5
Altered Gut Microbiota in a Fragile X Syndrome Mouse Model.脆性X综合征小鼠模型中肠道微生物群的改变
Front Neurosci. 2021 May 26;15:653120. doi: 10.3389/fnins.2021.653120. eCollection 2021.
6
HDAC2 targeting stabilizes the CoREST complex in renal tubular cells and protects against renal ischemia/reperfusion injury.靶向 HDAC2 可稳定肾小管细胞中的 CoREST 复合物并防止肾缺血/再灌注损伤。
Sci Rep. 2021 Apr 27;11(1):9018. doi: 10.1038/s41598-021-88242-3.
7
Neuroprotective Effect of Cannabidiol Against Hydrogen Peroxide in Hippocampal Neuron Culture.大麻二酚对过氧化氢诱导的海马神经元培养中的神经保护作用。
Cannabis Cannabinoid Res. 2021 Feb 12;6(1):40-47. doi: 10.1089/can.2019.0102. eCollection 2021.
8
The molecular biology of FMRP: new insights into fragile X syndrome.脆性 X 综合征的 FMRP 分子生物学：新见解。
Nat Rev Neurosci. 2021 Apr;22(4):209-222. doi: 10.1038/s41583-021-00432-0. Epub 2021 Feb 19.
9
Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement.男性和女性脆性X前突变携带者运动功能障碍的差异进展揭示了性别特异性神经受累的新方面。
Front Mol Biosci. 2021 Jan 12;7:577246. doi: 10.3389/fmolb.2020.577246. eCollection 2020.
10
Pharmacology and Pharmacokinetics of Vitamin E: Nanoformulations to Enhance Bioavailability.维生素 E 的药理学和药代动力学：提高生物利用度的纳米制剂。
Int J Nanomedicine. 2020 Dec 8;15:9961-9974. doi: 10.2147/IJN.S276355. eCollection 2020.
Zotero 插件