{"id":2150,"date":"2004-06-08T21:03:30","date_gmt":"2004-06-08T21:03:30","guid":{"rendered":"https:\/\/www.progeriaresearch.org\/?p=2150"},"modified":"2020-12-08T17:13:23","modified_gmt":"2020-12-08T22:13:23","slug":"gene-mutation-causes-progressive-changes-to-cell-structure-in-children-with-progeria","status":"publish","type":"post","link":"https:\/\/www.progeriaresearch.org\/pt\/2004\/06\/08\/gene-mutation-causes-progressive-changes-to-cell-structure-in-children-with-progeria\/","title":{"rendered":"Muta\u00e7\u00e3o gen\u00e9tica causa mudan\u00e7as progressivas na estrutura celular em crian\u00e7as com progeria"},"content":{"rendered":"

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Novo estudo avan\u00e7a em dire\u00e7\u00e3o ao tratamento e \u00e0 cura <\/em>para doen\u00e7a fatal de envelhecimento r\u00e1pido<\/em><\/p>\n

[Boston, MA \u2013 8 de junho de 2004] \u2013 Pesquisadores anunciaram hoje que uma muta\u00e7\u00e3o do gene Lamin A gradualmente causa efeitos devastadores na estrutura e fun\u00e7\u00e3o celular em crian\u00e7as com S\u00edndrome de Hutchinson-Gilford Progeria (HGPS ou Progeria). O estudo foi publicado na edi\u00e7\u00e3o desta semana Anais da Academia Nacional de Ci\u00eancias (PNAS).<\/em> Prog\u00e9ria \u00e9 uma doen\u00e7a gen\u00e9tica rara e fatal, caracterizada pelo aparecimento de envelhecimento acelerado em crian\u00e7as.<\/p>\n

\"Robert<\/p>\n

Robert D. Goldman, Ph.D.
Universidade Northwestern, Faculdade de Medicina Feinberg<\/em><\/p>\n

\u201cEmbora seja uma doen\u00e7a rara, a Progeria tem sido considerada h\u00e1 muito tempo um modelo para estudar os mecanismos respons\u00e1veis pelo envelhecimento normal\u201d, disse o autor principal Robert D. Goldman, Ph.D., Stephen Walter Ranson Professor e Presidente, Cell and Molecular Biology, Northwestern University, Feinberg School of Medicine. \u201cEste estudo destaca a import\u00e2ncia do gene Lamin A na manuten\u00e7\u00e3o da estrutura e fun\u00e7\u00e3o celular.\u201d<\/p>\n

Em abril de 2003, uma equipe de pesquisadores reunida pela The Progeria Research Foundation (PRF), e incluindo o National Human Genome Research Institute (NHGRI), um dos 27 institutos e centros que comp\u00f5em o National Institutes of Health (NIH), anunciou a descoberta do gene que causa a Progeria. Esse estudo, publicado na edi\u00e7\u00e3o de 16 de abril de 2003 da Nature, descobriu que a doen\u00e7a n\u00e3o \u00e9 heredit\u00e1ria, mas sim causada por muta\u00e7\u00f5es aleat\u00f3rias no gene LMNA (Lamin A). A prote\u00edna Lamin A \u00e9 o andaime estrutural que mant\u00e9m o n\u00facleo unido e est\u00e1 envolvida na express\u00e3o gen\u00e9tica e na replica\u00e7\u00e3o do DNA.<\/p>\n

No PNAS<\/em> estudo, resultado de um esfor\u00e7o colaborativo lan\u00e7ado por pesquisadores da Northwestern, The Progeria Research Foundation e NIH, t\u00e9cnicas microsc\u00f3picas e moleculares foram usadas para examinar a estrutura nuclear de c\u00e9lulas de crian\u00e7as com Progeria. \u00c0 medida que as c\u00e9lulas de Progeria envelheciam, havia um aumento gradual de defeitos em sua estrutura e fun\u00e7\u00e3o nuclear, refletindo um ac\u00famulo anormal da prote\u00edna Lamin A defeituosa. Mudan\u00e7as muito semelhantes foram vistas em c\u00e9lulas humanas normais de crian\u00e7as e idosos tratados com a Lamin A defeituosa. Esses pesquisadores agora acreditam que, \u00e0 medida que as c\u00e9lulas de Progeria envelhecem, h\u00e1 mudan\u00e7as significativas na fun\u00e7\u00e3o celular que s\u00e3o diretamente atribu\u00edveis \u00e0 quantidade de prote\u00edna Lamin A mutante.<\/p>\n

\"Progeria<\/p>\n


Fotografa n\u00facleos de c\u00e9lulas de Progeria \u00e0 medida que envelhecem em uma placa de cultura, mostrando mudan\u00e7as de c\u00e9lulas mais jovens (a) para mais velhas (c).<\/em><\/p>\n

\"Dr.\u00a0Dra. Frances Collins, Diretora do Instituto Nacional de Pesquisa do Genoma Humano<\/em><\/p>\n

\u201cEssas descobertas refor\u00e7am nossas suspeitas de que a instabilidade da membrana nuclear da c\u00e9lula desempenha um papel fundamental na S\u00edndrome de Hutchinson-Gilford Progeria. Agora sabemos muito mais sobre como um pequeno gene Dra. <\/em>a muta\u00e7\u00e3o pode levar a uma situa\u00e7\u00e3o na qual a arquitetura da c\u00e9lula \u00e9 severa e progressivamente danificada\u201d, disse o Dr. Francis Collins, Diretor do NHGRI e autor s\u00eanior do estudo.<\/p>\n

\"Leslie\u00a0Dra. Leslie Gordon, Diretora M\u00e9dica da Progeria Research Foundation<\/em><\/p>\n

\u201cAs descobertas deste estudo s\u00e3o cr\u00edticas para entender melhor a causa da doen\u00e7a card\u00edaca e do envelhecimento celular na Progeria\u201d, disse Leslie Gordon, MD, Ph.D., autora do estudo e diretora m\u00e9dica da The Progeria Research Foundation. \u201cEstamos otimistas de que, com cada novo estudo e descoberta no campo da Progeria, estamos um passo mais perto de encontrar uma cura.\u201d<\/p>\n

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[et_pb_section fb_built=\u201d1\u2033 _builder_version=\u201d3.22\u2033][et_pb_row _builder_version=\u201d3.25\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepeat\u201d][et_pb_column type=\u201d4_4\u2033 _builder_version=\u201d3.25\u2033 custom_padding=\u201d|||\u201d [et_pb_text _builder_version=\u201d4.6.5\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepeat\u201d] Novo estudo avan\u00e7a na busca por tratamento e cura para doen\u00e7a fatal de envelhecimento acelerado [Boston, MA \u2013 8 de junho de 2004] \u2013 Pesquisadores anunciaram hoje que uma muta\u00e7\u00e3o no gene da lamina A causa efeitos devastadores na estrutura e fun\u00e7\u00e3o celular em [\u2026]<\/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<\/p>

Robert D. Goldman, Ph.D.
Northwestern University, Feinberg School of Medicine<\/em><\/p>

\"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>

\"Progeria<\/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>

\"Dr.\u00a0Dr. Frances Collins, Director National Human Genome Research Institute<\/em><\/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>

\"Leslie\u00a0Dr. Leslie Gordon, Medical Director The Progeria Research Foundation<\/em><\/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":"\nGene Mutation Causes Progressive Changes to Cell Structure in Children with Progeria - The Progeria Research Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.progeriaresearch.org\/pt\/2004\/06\/08\/gene-mutation-causes-progressive-changes-to-cell-structure-in-children-with-progeria\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene Mutation Causes Progressive Changes to Cell Structure in Children with Progeria - The Progeria Research Foundation\" \/>\n<meta property=\"og:description\" content=\"[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 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gen\u00e9tica causa altera\u00e7\u00f5es progressivas na estrutura celular em crian\u00e7as com progeria - Funda\u00e7\u00e3o de Pesquisa da Progeria","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.progeriaresearch.org\/pt\/2004\/06\/08\/gene-mutation-causes-progressive-changes-to-cell-structure-in-children-with-progeria\/","og_locale":"pt_PT","og_type":"article","og_title":"Gene Mutation Causes Progressive Changes to Cell Structure in Children with Progeria - The Progeria Research Foundation","og_description":"[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” 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