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1
Progeria: A Rare Genetic Syndrome.早衰症:一种罕见的基因综合征。
Indian J Clin Biochem. 2020 Jan;35(1):3-7. doi: 10.1007/s12291-019-00849-6. Epub 2019 Sep 25.
2
Presence and distribution of progerin in HGPS cells is ameliorated by drugs that impact on the mevalonate and mTOR pathways.药物可改善 HGPS 细胞中早熟素的存在和分布,这些药物作用于甲羟戊酸和 mTOR 通路。
Biogerontology. 2019 Jun;20(3):337-358. doi: 10.1007/s10522-019-09807-4. Epub 2019 Apr 30.
3
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.亨廷顿病样 2 型进行性骨化性纤维发育不良的治疗策略概述。
Nucleus. 2018 Jan 1;9(1):246-257. doi: 10.1080/19491034.2018.1460045.
4
All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype.全反式维甲酸和雷帕霉素可使哈钦森-吉尔福德早衰症成纤维细胞表型正常化。
Oncotarget. 2015 Oct 6;6(30):29914-28. doi: 10.18632/oncotarget.4939.
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Cellular stress and AMPK activation as a common mechanism of action linking the effects of metformin and diverse compounds that alleviate accelerated aging defects in Hutchinson-Gilford progeria syndrome.细胞应激和 AMPK 激活作为一种共同作用机制,将二甲双胍和多种减轻哈钦森-吉尔福德早衰综合征加速衰老缺陷的化合物的作用联系起来。
Med Hypotheses. 2018 Sep;118:151-162. doi: 10.1016/j.mehy.2018.06.029. Epub 2018 Jun 28.
6
Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.表观遗传学与哈钦森-吉尔福德早衰综合征的关系:一篇综述
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Potential Benefits of Allogeneic Haploidentical Adipose Tissue-Derived Stromal Vascular Fraction in a Hutchinson-Gilford Progeria Syndrome Patient.异基因单倍体相合脂肪组织来源的基质血管成分对一名哈钦森-吉尔福德早衰综合征患者的潜在益处。
Front Bioeng Biotechnol. 2020 Oct 21;8:574010. doi: 10.3389/fbioe.2020.574010. eCollection 2020.
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Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome.血管平滑肌特异性早衰蛋白表达加速 Hutchinson-Gilford 早老综合征小鼠模型的动脉粥样硬化和死亡。
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9
Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome.哈钦森-吉尔福德早衰综合征故事中分子细胞生物学研究在人类医学中的重要性。
Interdiscip Toxicol. 2010 Sep;3(3):89-93. doi: 10.2478/v10102-010-0018-y.
10
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.与异常的LMNA突变相关的早老蛋白表达增加会导致严重的早衰综合征。
Hum Mutat. 2007 Sep;28(9):882-9. doi: 10.1002/humu.20536.

引用本文的文献

1
Epidemiological Study of The Mortality of Patients with Progeria during the Years 2013 To 2022 in Iran.2013年至2022年伊朗早老症患者死亡率的流行病学研究。
Med J Islam Repub Iran. 2025 Jan 4;39:3. doi: 10.47176/mjiri.39.3. eCollection 2025.

本文引用的文献

1
Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.对哈钦森-吉尔福德早衰症多能干细胞进行药物筛选,发现氨基嘧啶是法尼基化的新型调节剂。
Cell Death Dis. 2016 Feb 18;7(2):e2105. doi: 10.1038/cddis.2015.374.
2
Progeria: a rare genetic premature ageing disorder.早衰症:一种罕见的遗传性早衰疾病。
Indian J Med Res. 2014 May;139(5):667-74.
3
Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome.法尼基化抑制剂对哈钦森-吉尔福德早衰综合征患者生存的影响。
Circulation. 2014 Jul 1;130(1):27-34. doi: 10.1161/CIRCULATIONAHA.113.008285. Epub 2014 May 2.
4
Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.原纤维蛋白 A 通过细胞外机制引起早老症,并防止癌症侵袭。
Nat Commun. 2013;4:2268. doi: 10.1038/ncomms3268.
5
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.耗尽甲基转移酶 Suv39h1 可改善 DNA 修复并延长早衰症小鼠模型的寿命。
Nat Commun. 2013;4:1868. doi: 10.1038/ncomms2885.
6
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.成纤维细胞生长因子受体抑制剂治疗儿童早衰症的临床试验。
Proc Natl Acad Sci U S A. 2012 Oct 9;109(41):16666-71. doi: 10.1073/pnas.1202529109. Epub 2012 Sep 24.
7
Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria.法尼基化前层粘连蛋白 A 的自噬降解作为治疗层粘连蛋白相关早老症的方法。
Eur J Histochem. 2011 Oct 19;55(4):e36. doi: 10.4081/ejh.2011.e36.
8
Farnesyltransferase inhibitor treatment restores chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford progeria syndrome cells.法尼基转移酶抑制剂治疗可恢复亨廷顿病-吉尔福德早衰综合征细胞中的染色体区位置和活性染色体动力学。
Genome Biol. 2011 Aug 12;12(8):R74. doi: 10.1186/gb-2011-12-8-r74.
9
The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9.亨廷顿氏舞蹈症-吉福德早衰综合征中缺陷的核层扰乱了核质 Ran 梯度,并抑制了 Ubc9 的核定位。
Mol Cell Biol. 2011 Aug;31(16):3378-95. doi: 10.1128/MCB.05087-11. Epub 2011 Jun 13.
10
Lamin A precursor induces barrier-to-autointegration factor nuclear localization.核层蛋白 A 前体诱导自身整合因子的核定位。
Cell Cycle. 2010 Jul 1;9(13):2600-10. doi: 10.4161/cc.9.13.12080.

早衰症:一种罕见的基因综合征。

Progeria: A Rare Genetic Syndrome.

作者信息

Sharma Veena, Shukla Richa

机构信息

Department of Bioscience and Biotechnology, Banasthali University, Niwai, Tonk, Rajasthan 304022 India.

出版信息

Indian J Clin Biochem. 2020 Jan;35(1):3-7. doi: 10.1007/s12291-019-00849-6. Epub 2019 Sep 25.

DOI:10.1007/s12291-019-00849-6
PMID:32071491
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6995454/
Abstract

An uncommon deadly genetic situation symbolized by the presence of rapid maturation in infants is called as the Hutchinson-Gilford Progeria Syndrome. The term basically is meant as 'prematurely old' taken from the Greek meanings. The selective cause behind this syndrome is usually a mutation in a gene called LMNA. The product of this LMNA gene which is a protein i.e. Lamin-A is considered to be responsible for anatomical framing which clasps the nuclei of the cell, well organized and together. But, the recent investigations prove a deformity in the protein i.e. Lamin-A that leads to the non-stability of the nuclei an thus gives rise to the deadly situation of untimely ageing in the children popularly known as Progeria. The literature review investigation provided pivotal information about the therapeutic researches related to the syndrome, the mutational causes and the basic information including the major and minor symptoms generally shown by the patients affected with Hutchinson-Gilford Progeria Syndrome. Investigations on this rare, uncommon disease i.e. Progeria had begun a couple of years back and in some of the researches many important aspects about the causes and possible curative drugs related to the disease which can help the patients in leading a normal life with lesser side effects and symptoms have also been discussed. Further studies will more clearly clarify the possible curative agents and unrevealed mechanisms of the disease which will help the scientists to develop measures which can provide more beneficial and healthy life to the patients with lesser complications.

摘要

一种以婴儿快速成熟为特征的罕见致命遗传疾病被称为哈钦森-吉尔福德早衰综合征。这个术语基本上是从希腊语含义中取来的“过早衰老”之意。这种综合征背后的选择性病因通常是一种名为LMNA的基因突变。这个LMNA基因的产物是一种蛋白质,即核纤层蛋白A,它被认为负责构建包裹细胞核的结构,使其组织有序且紧密相连。但是,最近的研究证明核纤层蛋白A这种蛋白质存在畸形,这导致细胞核不稳定,从而引发了儿童过早衰老的致命状况,即早衰症。文献综述研究提供了有关该综合征的治疗研究、突变原因以及基本信息的关键信息,包括患有哈钦森-吉尔福德早衰综合征的患者通常表现出的主要和次要症状。对这种罕见疾病即早衰症的研究在几年前就已开始,并且在一些研究中还讨论了关于该疾病的病因以及可能的治疗药物的许多重要方面,这些药物可以帮助患者以较少的副作用和症状过上正常生活。进一步的研究将更清楚地阐明该疾病可能的治疗药物和未揭示的机制,这将有助于科学家制定措施,为患者提供更有益健康且并发症更少的生活。