Abstract

HUTCHINSON – GILFORD PROGERIA SYNDROME

Apeksha S. Pangare* and Dr. Pratima S. Shinde

ABSTRACT

Hutchinson – Gilford Progeria Syndrome (HGPS) is an Autosomal dominant, rare, fatal pediatric segmental pre-mature aging disease. Hutchinson – Gilford Progeria Syndrome, a rare genetics disorder associated with a characteristic aged appearance very early in life. The review on Hutchinson- Gilford Progeria Syndrome sumarizes the clinical characteristics of this disease and therefore the underlying mutation within in the lamin A (LMNA) gene that leads to produce abnormal lamin A i.e Progerin; this disrupts the nuclear membrane and alters transcription. Accumulation of this progerin proteins in the normal cell which leads to nuclear moephology defects, decreased lifespan and premature cell death occurs. Based on the positive outcomes from the studies based on statins, aminobisphosphonates and FTIs, two clinical trials have been performed in children with HGPS.

Keywords: Hutchinson – Gilford Progeria Syndrome, Progerin Protein, Lamin A/C gene