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首页> 外文期刊>Nucleus >An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome
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An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

机译：Hutchinson-Gilford早衰综合症的治疗策略概述

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Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6?years usually due to cardiovascular complications. HGPS is caused by a de novo point mutation in the LMNA gene encoding the intermediate filament proteins lamins A and C which are structural components of the nuclear lamina. This mutation leads to the production of a truncated toxic form of lamin A, issued from aberrant splicing and called progerin. Progerin accumulates in HGPS cells’ nuclei and is a hallmark of the disease. Small amounts of progerin are also produced during normal aging. HGPS cells and animal preclinical models have provided insights into the molecular and cellular pathways that underlie the disease and have also highlighted possible mechanisms involved in normal aging. This review reports recent medical advances and treatment approaches for patients affected with HGPS.
机译：Hutchinson-Gilford早衰综合症（HGPS）是一种偶发性常染色体显性遗传疾病，其特征是过早和加速衰老的症状导致通常在14.6岁时死亡，通常是由于心血管并发症引起的。 HGPS是由LMNA基因中的从头突变引起的，该基因编码中间细丝蛋白lamins A和C，它们是核层的结构成分。这种突变导致产生了截短的有毒形式的层粘连蛋白A，由异常剪接产生，被称为早老蛋白。 Progerin积聚在HGPS细胞核中，是该疾病的标志。在正常衰老过程中也会产生少量的早老素。 HGPS细胞和动物临床前模型为深入了解疾病的分子和细胞途径提供了见识，并突出了正常衰老的可能机制。这篇综述报道了针对HGPS患者的最新医学进展和治疗方法。

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