Hutchinson– Gilford Progeria Syndrome is a very rare disorder characterized by premature ageing caused due to mutation in LMNA gene. The child born with this disorder shows features of old age from first year of birth and generally dies in teenage. The clinical symptoms include alopecia, thin skin, stiffness of joints etc. All of the children suffering from this disease appear identical. The pa...

The Rockefeller University Press $30.00 J. Cell Biol. Vol. 208 No. 6 729–744 www.jcb.org/cgi/doi/10.1083/jcb.201412024 JCB 729 Correspondence to Susan R. Wente: [email protected] Abbreviations used in this paper: ANOVA, analysis of variance; CCFW, calcofluor white; cNLS, classical NLS; DR, dietary restriction; ERC, extrachromosomal ribosomal DNA circle; HGPS, Hutchinson–Gilford progeri...

Progeroid laminopathies are accelerated aging syndromes caused by defects in nuclear envelope proteins. Accordingly, mutations in the LMNA gene and functionally related genes have been described to cause HGPS (Hutchinson-Gilford progeria syndrome), MAD (mandibuloacral dysplasia) or RD (restrictive dermopathy). Functional studies with animal and cellular models of these syndromes have facilitate...

Hutchinson-Gilford Progeria (acute premature aging) is caused by a de novo point mutation in the lamin A gene. Recently, this has been accurately corrected base editing patient cell lines and mouse model, resulting nearly complete reversal to normal phenotype. This success opens perspective for clinical applications other diseases.

Hutchinson–Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a five year old female child with clinical manifestations characteristic of this syndrome. This child had a senile look with large cranium, frontal bossing, sparse light brown hair and dilated visible veins over the scalp. Other features...

INTRODUCTION Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported ...

Hutchinson Gilford progeria syndrome is a fatal disorder characterized by accelerated aging, bone resorption and atherosclerosis, caused by a LMNA mutation which produces progerin, a mutant lamin A precursor. Progeria cells display progerin and prelamin A nuclear accumulation, altered histone methylation pattern, heterochromatin loss, increased DNA damage and cell cycle alterations. Since the L...