Hutchinson-Gilford Progeria Syndrome
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What is Hutchinson-Gilford progeria syndrome?Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and develop a characteristic facial appearance, hair loss (alopecia), aged-looking skin, and severe hardening of the arteries (atherosclerosis). How common is Hutchinson-Gilford progeria syndrome?This condition is very rare; it is reported to affect 1 in 8 million newborns worldwide. More than 100 cases have been reported in the scientific literature since the condition was first described in 1886. What genes are related to Hutchinson-Gilford progeria syndrome?Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene makes a protein called lamin A. This protein is an essential scaffolding (supporting) component of a membrane called the nuclear envelope, which surrounds the nucleus in cells. Mutations that cause Hutchinson-Gilford progeria syndrome disrupt the normal production of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the structure and function of the nucleus. Researchers have not determined how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome. How do people inherit Hutchinson-Gilford progeria syndrome?Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.
Source: National Institutes of Health
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New cancer genetics study findings have been published by scientists at University of Oviedo
2007 MAR 12 -- A new study, "Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions," is now available. According to recent research from Oviedo, Spain, "Disorders in which individuals exhibit certain features of aging early in life are referred to as segmental progeroid syndromes. With the progress that has been made in understanding the etiologies of these conditions in the past decade, potential therapeutic options have begun to move from the realm of improbability to initial stages of testing." "Among these syndromes, relevant advances have recently been made in Werner syndrome, one of several progeroid syndromes characterized by defective DNA helicases, and Hutchinson-Gilford progeria syndrome, which is characterized by aberrant processing of the nuclear envelope protein lamin A. Although best known for their causative roles in these illnesses, Werner protein and lamin A have also recently emerged as key players vulnerable to epigenetic changes that contribute to tumorigenesis and aging," wrote C.L. Ramírez and colleagues, University of Oviedo. The researchers concluded: "These advances further demonstrate that understanding progeroid syndromes and introducing adequate treatments will not only prove beneficial to patients suffering from these dramatic diseases, but will also provide new mechanistic insights into cancer and normal aging processes." Ramírez and colleagues published their study in Cellular and Molecular Life Sciences (Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions. Cellular and Molecular Life Sciences, 2007;64(2):155-70). For additional information, contact C.L. Ramírez, Universidad de Oviedo, Departamento de Bioquimica y Biologia Molecular, Facultad de Medicina, Instituto Universitario de Oncologia, 33006, Oviedo, Spain. Publisher contact information for the journal Cellular and Molecular Life Sciences is: Birkhauser Verlag Ag, Viadukstrasse 40-44, PO Box 133, CH-4010 Basel, Switzerland. Keywords: Spain, Oviedo, Cancer Genetics, Cancer, Cellular, Genetics, Oncology. This article was prepared by Clinical Oncology Week editors from staff and other reports. Copyright 2007, Clinical Oncology Week via NewsRx.com.
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