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<p>Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare and fatal disorder characterized by premature aging, predominantly resulting from mutations in the <i>LMNA</i> 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 <i>LMNA</i> 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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年9月29日

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  • Xiaoqing Zhou,
  • Jun Song

摘要

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.