Lipodystrophy-associated progeroid syndromes.

IF 2.5
Hormones (Athens, Greece) Pub Date : 2022-12-01 Epub Date: 2022-07-15 DOI:10.1007/s42000-022-00386-7
David Araújo-Vilar, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Ana I Castro, Sofía Sánchez-Iglesias
{"title":"Lipodystrophy-associated progeroid syndromes.","authors":"David Araújo-Vilar,&nbsp;Antía Fernández-Pombo,&nbsp;Silvia Cobelo-Gómez,&nbsp;Ana I Castro,&nbsp;Sofía Sánchez-Iglesias","doi":"10.1007/s42000-022-00386-7","DOIUrl":null,"url":null,"abstract":"<p><p>With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not generally recovered. As a consequence, an ectopic deposition of lipids frequently occurs, which usually leads to insulin resistance, atherogenic dyslipidemia, and hepatic steatosis. These disorders include certain accelerated aging syndromes or progeroid syndromes. Even though each of them has unique clinical features, most show common clinical characteristics that affect growth, skin and appendages, adipose tissue, muscle, and bone and, in some of them, life expectancy is reduced. Although the molecular bases of these Mendelian disorders are very diverse and not well known, genomic instability is frequent as a consequence of impairment of nuclear organization, chromatin structure, and DNA repair, as well as epigenetic dysregulation and mitochondrial dysfunction. In this review, the main clinical features of the lipodystrophy-associated progeroid syndromes will be described along with their causes and pathogenic mechanisms, and an attempt will be made to identify which of López-Otín's hallmarks of aging are present.</p>","PeriodicalId":520640,"journal":{"name":"Hormones (Athens, Greece)","volume":" ","pages":"555-571"},"PeriodicalIF":2.5000,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hormones (Athens, Greece)","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s42000-022-00386-7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/7/15 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 3

Abstract

With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not generally recovered. As a consequence, an ectopic deposition of lipids frequently occurs, which usually leads to insulin resistance, atherogenic dyslipidemia, and hepatic steatosis. These disorders include certain accelerated aging syndromes or progeroid syndromes. Even though each of them has unique clinical features, most show common clinical characteristics that affect growth, skin and appendages, adipose tissue, muscle, and bone and, in some of them, life expectancy is reduced. Although the molecular bases of these Mendelian disorders are very diverse and not well known, genomic instability is frequent as a consequence of impairment of nuclear organization, chromatin structure, and DNA repair, as well as epigenetic dysregulation and mitochondrial dysfunction. In this review, the main clinical features of the lipodystrophy-associated progeroid syndromes will be described along with their causes and pathogenic mechanisms, and an attempt will be made to identify which of López-Otín's hallmarks of aging are present.

脂肪营养不良相关的类早衰综合征。
除了艾滋病毒相关的脂肪营养不良外,脂肪营养不良综合征是一种罕见的以脂肪组织缺乏为特征的疾病,这种疾病通常无法恢复。因此,经常发生脂质异位沉积,这通常导致胰岛素抵抗、动脉粥样硬化性血脂异常和肝脂肪变性。这些疾病包括某些加速衰老综合征或类早衰综合征。尽管每一种都有独特的临床特征,但大多数都表现出影响生长、皮肤和附属物、脂肪组织、肌肉和骨骼的共同临床特征,其中一些还会缩短预期寿命。尽管这些孟德尔疾病的分子基础非常多样且不为人所知,但由于核组织、染色质结构和DNA修复的损伤以及表观遗传失调和线粒体功能障碍,基因组不稳定是常见的。在这篇综述中,脂肪营养不良相关的类早衰综合征的主要临床特征将被描述及其原因和致病机制,并试图确定哪些López-Otín的衰老标志是存在的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信