解开哈钦森-吉尔福德早衰综合征的奥秘：LMNA基因突变的全面回顾。

IF 4.1 4区医学 Q1 GERIATRICS & GERONTOLOGY

Biogerontology Pub Date : 2025-09-29 DOI:10.1007/s10522-025-10330-y

Xiaoqing Zhou, Jun Song

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引用次数: 0

摘要

哈钦森-吉尔福德早衰综合征（HGPS）是一种罕见的致命性疾病，其特征是过早衰老，主要是由LMNA基因突变引起的，该基因突变导致了一种截短和异常的早衰蛋白的积累。本文就LMNA基因突变引起的HGPS的基本理论、流行病学、病理机制和治疗策略等方面进行了综述。此外，本文还探讨了目前临床翻译中面临的挑战，旨在为HGPS领域的研究和治疗开发提供全面的参考。

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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Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare and fatal disorder characterized by premature aging, predominantly resulting from mutations in the LMNA gene, which lead to the accumulation of a truncated and aberrant progerin protein. This paper offers an in-depth review of the fundamental theories, epidemiology, pathological mechanisms, and treatment strategies associated with HGPS as caused by LMNA gene mutations. Furthermore, it examines the current challenges in clinical translation, with the objective of providing a comprehensive reference for research and therapeutic development in the field of HGPS.

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来源期刊

Biogerontology 医学-老年医学

CiteScore

8.00

自引率

4.40%

发文量

审稿时长

>12 weeks

期刊介绍： The journal Biogerontology offers a platform for research which aims primarily at achieving healthy old age accompanied by improved longevity. The focus is on efforts to understand, prevent, cure or minimize age-related impairments. Biogerontology provides a peer-reviewed forum for publishing original research data, new ideas and discussions on modulating the aging process by physical, chemical and biological means, including transgenic and knockout organisms; cell culture systems to develop new approaches and health care products for maintaining or recovering the lost biochemical functions; immunology, autoimmunity and infection in aging; vertebrates, invertebrates, micro-organisms and plants for experimental studies on genetic determinants of aging and longevity; biodemography and theoretical models linking aging and survival kinetics.