Hutchinson-Gilford progeria syndrome (HGPS)

Hutchinson-Gilford 早衰综合征

英文解释

Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms.HGPS is caused by a de novo point mutation in the LMNA gene encoding the intermediate filament proteins lamins A and C. Progerin accumulates in HGPS cells' nuclei and is a hallmark of the disease.

中文解释

Hutchinson-Gilford 早衰综合征 (HGPS) 是一种散发性、常染色体显性遗传病，其特征是早衰和加速衰老症状。HGPS 是由编码中间丝蛋白核纤层蛋白 A 和 C 的 LMNA 基因的新生点突变引起的。早衰蛋白在 HGPS 中积累 细胞的细胞核，是该疾病的标志。

参考文献

[1]. Karim Harhouri, et al. An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. Nucleus. 2018 Jan 1;9(1):246-257.