肥胖症患者罕见基因变异、基因检测和基因疗法的最新进展。

IF 9.5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Current Obesity Reports Pub Date : 2024-09-01 Epub Date: 2024-06-01 DOI:10.1007/s13679-024-00567-y
Michael V Zuccaro, Charles A LeDuc, Vidhu V Thaker
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引用次数: 0

摘要

综述目的:本文旨在汇总过去五年中有关单基因导致肥胖的信息,并为临床护理中的基因检测提供指导:最近的发现:测序技术的进步、认知度的提高、检测途径的增加以及新疗法的出现,提高了遗传学在临床治疗中的应用。从平均等位基因频率的变异中,人们越来越认识到罕见遗传性肥胖的普遍性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity.

Purpose of review: The goal of this paper is to aggregate information on monogenic contributions to obesity in the past five years and to provide guidance for genetic testing in clinical care.

Recent findings: Advances in sequencing technologies, increasing awareness, access to testing, and new treatments have increased the utilization of genetics in clinical care. There is increasing recognition of the prevalence of rare genetic obesity from variants with mean allele frequency < 5% -new variants in known genes as well as identification of novel genes- causing monogenic obesity. While most of these genes are in the leptin melanocortin pathway, those in adipocytes may also contribute. Common variants may contribute either to higher lifetime tendency for weight gain or provide protection from monogenic obesity. While specific genetic mutations are rare, these segregate in individuals with early-onset severe obesity; thus, collectively genetic etiologies are not as rare. Some genetic conditions are amenable to targeted treatment. Research into the discovery of novel genetic causes as well as targeted treatment is growing over time. The utility of therapeutic strategies based on the genetic risk of obesity is an advancing frontier.

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来源期刊
Current Obesity Reports
Current Obesity Reports Medicine-General Medicine
CiteScore
16.40
自引率
1.10%
发文量
25
期刊介绍: The main objective of Current Obesity Reports is to provide expert review articles on recent advancements in the interdisciplinary field of obesity research. Our aim is to offer clear, insightful, and balanced contributions that will benefit all individuals involved in the treatment and prevention of obesity, as well as related conditions such as cardiovascular diseases, endocrine disorders, gynecological issues, cancer, mental health, respiratory complications, and rheumatological diseases. We strive to redefine the way knowledge is expressed and provide organized content for the benefit of our readership.
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