Hutchinson-Gilford progeria syndrome (HGPS)

Definition:

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.

References:

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

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