[Boston, MA \u2013 8 juin 2004] \u2013 Des chercheurs ont annonc\u00e9 aujourd\u2019hui qu\u2019une mutation du g\u00e8ne de la lamine A provoque progressivement des effets d\u00e9vastateurs sur la structure et la fonction cellulaires chez les enfants atteints du syndrome de Hutchinson-Gilford-Progeria (HGPS ou Progeria). L\u2019\u00e9tude a \u00e9t\u00e9 publi\u00e9e dans le num\u00e9ro de cette semaine de Actes de l'Acad\u00e9mie nationale des sciences (PNAS).<\/em> La prog\u00e9ria est une maladie g\u00e9n\u00e9tique rare et mortelle caract\u00e9ris\u00e9e par une apparition de vieillissement acc\u00e9l\u00e9r\u00e9 chez les enfants.<\/p>\n Robert D. Goldman, Ph.D. \u00ab Bien qu\u2019il s\u2019agisse d\u2019une maladie rare, la prog\u00e9ria est depuis longtemps consid\u00e9r\u00e9e comme un mod\u00e8le pour l\u2019\u00e9tude des m\u00e9canismes responsables du vieillissement normal \u00bb, a d\u00e9clar\u00e9 l\u2019auteur principal Robert D. Goldman, Ph.D., professeur Stephen Walter Ranson et pr\u00e9sident du d\u00e9partement de biologie cellulaire et mol\u00e9culaire \u00e0 la facult\u00e9 de m\u00e9decine Feinberg de l\u2019universit\u00e9 Northwestern. \u00ab Cette \u00e9tude souligne l\u2019importance du g\u00e8ne de la lamine A dans le maintien de la structure et de la fonction cellulaire. \u00bb<\/p>\n En avril 2003, une \u00e9quipe de chercheurs r\u00e9unie par la Progeria Research Foundation (PRF), et incluant le National Human Genome Research Institute (NHGRI), l'un des 27 instituts et centres qui composent les National Institutes of Health (NIH), a annonc\u00e9 la d\u00e9couverte du g\u00e8ne responsable de la prog\u00e9ria. Cette \u00e9tude, publi\u00e9e dans le num\u00e9ro du 16 avril 2003 de la revue Nature, a r\u00e9v\u00e9l\u00e9 que la maladie n'est pas h\u00e9r\u00e9ditaire, mais plut\u00f4t caus\u00e9e par des mutations al\u00e9atoires du g\u00e8ne LMNA (Lamine A). La prot\u00e9ine Lamine A est l'\u00e9chafaudage structurel qui maintient le noyau et est impliqu\u00e9e dans l'expression des g\u00e8nes et la r\u00e9plication de l'ADN.<\/p>\n Dans le PNAS<\/em> Dans cette \u00e9tude, fruit d'un effort collaboratif lanc\u00e9 par des chercheurs de Northwestern, de la Progeria Research Foundation et du NIH, des techniques microscopiques et mol\u00e9culaires ont \u00e9t\u00e9 utilis\u00e9es pour examiner la structure nucl\u00e9aire des cellules d'enfants atteints de prog\u00e9ria. Au fur et \u00e0 mesure que les cellules de la Prog\u00e9ria vieillissaient, on observait une augmentation progressive des d\u00e9fauts dans leur structure et leur fonction nucl\u00e9aires, refl\u00e9tant une accumulation anormale de la prot\u00e9ine d\u00e9fectueuse Lamine A. Des changements tr\u00e8s similaires ont \u00e9t\u00e9 observ\u00e9s dans les cellules humaines normales d'enfants et de personnes \u00e2g\u00e9es trait\u00e9es avec la prot\u00e9ine Lamine A d\u00e9fectueuse. Ces chercheurs pensent maintenant qu'au fur et \u00e0 mesure que les cellules de la Prog\u00e9ria vieillissent, des changements importants dans la fonction cellulaire se produisent, directement attribuables \u00e0 la quantit\u00e9 de prot\u00e9ine Lamine A mutante.<\/p>\n \u00ab Ces r\u00e9sultats renforcent nos soup\u00e7ons selon lesquels l'instabilit\u00e9 de la membrane nucl\u00e9aire de la cellule joue un r\u00f4le cl\u00e9 dans le syndrome de Hutchinson-Gilford-Progeria. Nous en savons d\u00e9sormais beaucoup plus sur la fa\u00e7on dont un minuscule m\u00e9canisme g\u00e9n\u00e9tique Dr. <\/em>\u00ab Cette mutation peut conduire \u00e0 une situation dans laquelle l'architecture de la cellule est gravement et progressivement endommag\u00e9e \u00bb, a d\u00e9clar\u00e9 le Dr Francis Collins, directeur du NHGRI et auteur principal de l'\u00e9tude.<\/p>\n \u00ab Les r\u00e9sultats de cette \u00e9tude sont essentiels pour mieux comprendre la cause des maladies cardiaques et du vieillissement cellulaire chez les personnes atteintes de prog\u00e9ria \u00bb, a d\u00e9clar\u00e9 Leslie Gordon, docteur en m\u00e9decine et Ph.D., auteur de l\u2019\u00e9tude et directeur m\u00e9dical de la Progeria Research Foundation. \u00ab Nous sommes optimistes quant au fait qu\u2019avec chaque nouvelle \u00e9tude et d\u00e9couverte dans le domaine de la prog\u00e9ria, nous nous rapprochons un peu plus de la d\u00e9couverte d\u2019un rem\u00e8de. \u00bb<\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":" [et_pb_section fb_built=”1″ _builder_version=”3.22″][et_pb_row _builder_version=”3.25″ background_size=”initial” background_position=”top_left” background_repeat=”repeat”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.6.5″ background_size=”initial” background_position=”top_left” background_repeat=”repeat”] New Study Advances Drive for Treatment and Cure for Fatal Rapid-Aging Disease [Boston, MA – June 8, 2004] – Researchers today announced that a mutation of the Lamin A gene gradually causes devastating effects on cellular structure and function in […]<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":" New Study Advances Drive for Treatment and Cure <\/em>for Fatal Rapid-Aging Disease<\/em><\/p> [Boston, MA - June 8, 2004] - Researchers today announced that a mutation of the Lamin A gene gradually causes devastating effects on cellular structure and function in children with Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria). The study was published in this week's Proceedings of the National Academy of Sciences (PNAS).<\/em> Progeria is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.<\/p> Robert D. Goldman, Ph.D. \"Although it is a rare disease, Progeria has long been considered to be a model for studying the mechanisms responsible for normal aging\" said lead author Robert D. Goldman, Ph.D., Stephen Walter Ranson Professor and Chair, Cell and Molecular Biology, Northwestern University, Feinberg School of Medicine. \"This study highlights the importance of the Lamin A gene in the maintenance of cell structure and function.\"<\/p> In April 2003, a team of researchers assembled by The Progeria Research Foundation (PRF), and including the National Human Genome Research Institute (NHGRI), one of the 27 institutes and centers that make up the National Institutes of Health (NIH), announced the discovery of the gene that causes Progeria. That study, published in the April 16th 2003 issue of Nature, found that the disease is not inherited, but instead is caused by chance mutations to the LMNA gene (Lamin A). The Lamin A protein is the structural scaffolding that holds the nucleus together, and is involved in gene expression and DNA replication.<\/p> In the PNAS<\/em> study, the result of a collaborative effort launched by researchers from Northwestern, The Progeria Research Foundation and NIH, microscopic and molecular techniques were used to examine the nuclear structure of cells from children with Progeria. As the Progeria cells aged, there was a gradual increase in defects in their nuclear structure and function, reflecting an abnormal accumulation of the defective Lamin A protein. Very similar changes were seen in normal human cells from both children and elderly persons treated with the defective Lamin A. These researchers now believe that as Progeria cells age, there are significant changes in cell function that are directly attributable to the amount of mutant Lamin A protein.<\/p> Photographs nuclei of Progeria cells as they age in a culture dish showing changes from younger (a) to older (c) cells.<\/em><\/p> \u00a0<\/p> \"These findings strengthen our suspicions that instability of the cell's nuclear membrane plays a key role in Hutchinson-Gilford Progeria Syndrome. We now know far more about how one tiny, genetic Dr. <\/em>mutation can lead to a situation in which the cell's architecture is severely and progressively damaged,\" said Dr. Francis Collins, Director of NHGRI and the study's senior author.<\/p> \u00a0<\/p> \"The findings of this study are critical to further understanding the cause of heart disease and cellular aging in Progeria,\" said Leslie Gordon, M.D., Ph.D., study author and Medical Director of The Progeria Research Foundation. \"We are optimistic that with every new study and discovery in the field of Progeria, we are one step closer to finding a cure.\"<\/p><\/div><\/div><\/div><\/div>","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[],"class_list":["post-2150","post","type-post","status-publish","format-standard","hentry","category-news"],"yoast_head":"\n![\"Robert](\"https:\/\/web.archive.org\/web\/20170215204807im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/RobertGoldmansm.jpg\")
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Universit\u00e9 Northwestern, \u00c9cole de m\u00e9decine Feinberg<\/em><\/p>\n![\"Progeria](\"https:\/\/web.archive.org\/web\/20170215204807im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/nucleism.jpg\")
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Photographies des noyaux de cellules Progeria \u00e0 mesure qu'elles vieillissent dans une bo\u00eete de culture montrant les changements des cellules plus jeunes (a) aux cellules plus \u00e2g\u00e9es (c).<\/em><\/p>\n![\"Dr.](\"https:\/\/web.archive.org\/web\/20170215204807im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/FrancesCollinssm.jpg\")
\u00a0Dr Frances Collins, directrice de l'Institut national de recherche sur le g\u00e9nome humain<\/em><\/p>\n![\"Leslie](\"https:\/\/web.archive.org\/web\/20170215204807im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/LeslieGordonsm.jpg\")
\u00a0Dr Leslie Gordon, directrice m\u00e9dicale de la Progeria Research Foundation<\/em><\/p>\n<\/p>
Northwestern University, Feinberg School of Medicine<\/em><\/p><\/p>\u00a0Dr. Frances Collins, Director National Human Genome Research Institute<\/em><\/p>\u00a0Dr. Leslie Gordon, Medical Director The Progeria Research Foundation<\/em><\/p>