Metabolic Dysfunction in Hutchinson–Gilford Progeria Syndrome
نویسندگان
چکیده
منابع مشابه
Hutchinson-Gilford Progeria Syndrome
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.
متن کاملHutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4]. Approximately 90% of HGPS patients have an identica...
متن کاملMetabolic Syndrome and Erectile Dysfunction
OBJECTIVE To study the relation between metabolic syndrome (MS), cavernosal morphological vasculopathy, and peripheral vascular alterations (carotid and femoral wall) in patients with erectile dysfunction. RESEARCH DESIGN AND METHODS A total of 207 patients and 50 control subjects were evaluated for cardiovascular risk factors, physical examination, reproductive hormones, ultrasound analysis ...
متن کاملAdult Progeria: Werner Syndrome.
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...
متن کاملHutchinson-Guilford progeria syndrome.
Progeria is a human disease model of accelerated ageing. The progeria syndrome is a rare genetic disorder, first reported in 1886 by Hutchinson and Guilford in England. The inheritance pattern, paternal age eVect, and lack of consanguinity argue that it is due to a sporadic dominant mutation. HutchinsonGuilford progeria syndrome (HGPS) is associated with several features of premature ageing—for...
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ژورنال
عنوان ژورنال: Cells
سال: 2020
ISSN: 2073-4409
DOI: 10.3390/cells9020395