Werner's syndrome is an adult premature aging syndrome of autosomal recessive inheritance affecting connective tissues throughout the body.1 The exact etiology remains obscure even though biochemical and connective tissue abnormalities have been postulated.2 The disease involves multiple systems of the body and may be associated with internal malignancy.3 We report a case of a 35 year old man w...

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, uniformly fatal, segmental "premature aging" disease in which children exhibit phenotypes that may give us insights into the aging process at both the cellular and organismal levels. Initial presentation in early childhood is primarily based on growth and dermatologic findings. Primary morbidity and mortality for children with HG...

INTRODUCTION Hutchinson-Gilford progeria syndrome is a rare pediatric genetic syndrome with an incidence of one per eight million live births. The disorder is characterized by premature aging, generally leading to death due to myocardial infarction or stroke at approximately 13.4 years of age. The genetic diagnosis and special clinical manifestation in two Han Chinese siblings observed at our c...

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare premature and accelerated aging disease caused by a de novo point mutation in LMNA encoding A-type lamins. Progerin, a truncated and toxic form of prelamin A, accumulates in HGPS cells nuclei and is a hallmark of the disease. We show that progerin is sequestered, together with other proteins (lamins B1/B2, emerin), into abnormally...

Cellular accumulation of DNA damage has been widely implicated in cellular senescence, aging, and premature aging. In Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD), premature aging is linked to accumulation of DNA double-strand breaks (DSBs), which results in genome instability. However, how DSBs accumulate in cells despite the presence of intact DNA repair protein...

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...

A-type lamins are components of the peripheral nuclear lamina but also localize in the nuclear interior in a complex with lamina-associated polypeptide (LAP) 2α. Loss of LAP2α and nucleoplasmic lamins in wild-type cells increases cell proliferation, but in cells expressing progerin (a mutant lamin A that causes Hutchinson-Gilford progeria syndrome), low LAP2α levels result in proliferation defe...

In the late 1800s, Hutchinson reported two young boys with ‘congenital absence of hair and its appendages’. They, and an additional patient, were described further by Gilford, who proposed the term ‘progeria’ for this condition [1]. Hutchinson–Gilford Progeria syndrome (HGPS) is a rare developmental disorder affecting most of the organ systems in a manner that mimics, to some extent, features o...

BACKGROUND Hutchinson-Gilford progeria syndrome is an ultrarare segmental premature aging disease resulting in early death from heart attack or stroke. There is no approved treatment, but starting in 2007, several recent single-arm clinical trials administered inhibitors of protein farnesylation aimed at reducing toxicity of the disease-producing protein progerin. No study assessed whether trea...