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

Xiaoqing Zhou, Jun Song

Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, School of Pharmacy and Food Engineering, Wuyi University, Jiangmen, 529000, China. [email protected] Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, School of Pharmacy and Food Engineering, Wuyi University, Jiangmen, 529000, China. [email protected]. · pubmed

Paper

Abstract

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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Research summary

This paper reviews the mechanisms and treatment strategies associated with Hutchinson-Gilford Progeria Syndrome caused by LMNA gene mutations. The relevance lies in its focus on a genetic disorder that exemplifies aspects of premature aging, which can provide insights into the biological processes of aging and potential therapeutic approaches.

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