{"id":768,"date":"2017-02-25T22:25:44","date_gmt":"2017-02-25T22:25:44","guid":{"rendered":"https:\/\/www.progeriaresearch.org\/?page_id=768"},"modified":"2023-09-22T10:25:27","modified_gmt":"2023-09-22T14:25:27","slug":"the-science-behind-progeria","status":"publish","type":"page","link":"https:\/\/www.progeriaresearch.org\/nl\/the-science-behind-progeria\/","title":{"rendered":"De wetenschap achter Progeria"},"content":{"rendered":"

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De wetenschap<\/h1>\n

Achter Progeria<\/h1>\n

[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 use_custom_gutter=\u201daan\u201d gutter_width=\u201d1\u2033 specialty=\u201daan\u201d padding_left_1=\u201d35px\u201d padding_left_2=\u201d35px\u201d padding_2_tablet=\u201d|||0px\u201d padding_2_phone=\u201d|||0px\u201d padding_2_last_edited=\u201daan|desktop\u201d module_class_1=\u201dsidebar-secondary-nav\u201d module_class=\u201dhandprint-bg\u201d _builder_version=\u201d4.16\u2033 background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png\u201d parallax=\u201daan\u201d parallax_method=\u201duit\u201d inner_width=\u201d100%\u201d inner_max_width=\u201d100%\u201d custom_padding=\u201d0|0px|54px|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d10px\u201d border_color_top=\u201d#8fd2ed\u201d use_custom_width=\u201don\u201d width_unit=\u201doff\u201d custom_width_percent=\u201d100%\u201d global_colors_info=\u201d{}\u201d][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_sidebar area=\u201det_pb_widget_area_18\u2033 disabled_on=\u201daan|aan|uit\u201d module_class=\u201dsubpage-sidebars\u201d _builder_version=\u201d4.16\u2033 animation_style=\u201dfade\u201d z_index_tablet=\u201d500\u2033 border_width_right=\u201d5px\u201d global_colors_info=\u201d{}\u201d]
\n[\/et_pb_sidebar][\/et_pb_column][et_pb_column type=\u201d3_4\u2033 specialty_columns=\u201d3\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_row_inner custom_padding_last_edited=\u201dop|telefoon\u201d _builder_version=\u201d4.16\u2033 custom_padding=\u201d39.4375px|35px|35px||false|false\u201d custom_padding_tablet=\u201d|35px||35px||true\u201d custom_padding_phone=\u201d\u201d animation_direction=\u201dboven\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.17.6\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201dherhalen\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

\"\"Kinderen met Progeria zijn genetisch gepredisponeerd voor vroegtijdige, progressieve hartziekten. De dood treedt bijna uitsluitend op door wijdverspreide hartziekten, de belangrijkste doodsoorzaak wereldwijd. Zoals bij iedereen die lijdt aan een hartziekte, zijn de meest voorkomende gebeurtenissen voor Progeria-kinderen hoge bloeddruk, beroertes, angina pectoris (pijn op de borst door slechte bloedtoevoer naar het hart zelf), vergroot hart en hartfalen, allemaal aandoeningen die verband houden met veroudering.<\/p>\n

Er is dus duidelijk een enorme behoefte aan onderzoek naar Progeria. Het vinden van een remedie voor Progeria zal niet alleen deze kinderen helpen, maar kan ook sleutels bieden voor de behandeling van miljoenen volwassenen met hartziekten en beroertes die verband houden met het natuurlijke verouderingsproces.<\/p>\n

Hutchinson-Gilford Progeria Syndroom (\u201cProgeria\u201d of \u201cHGPS\u201d) wordt veroorzaakt door een mutatie in het gen genaamd LMNA (uitgesproken als lamin \u2013 a). Het LMNA-gen produceert het Lamin A-eiwit, wat de structurele steiger is die de kern van een cel bij elkaar houdt. Onderzoekers geloven nu dat het defecte Lamin A-eiwit de kern instabiel maakt. Die cellulaire instabiliteit lijkt te leiden tot het proces van vroegtijdige veroudering bij Progeria.<\/p>\n

PRF was de drijvende kracht achter het vinden van het gen dat verantwoordelijk is voor Progeria. Een groep vooraanstaande wetenschappers van het Genetics Consortium van The Progeria Research Foundation was in staat om het Progeria-gen te isoleren in oktober 2002, en in april 2003 leidde PRF de aankondiging dat Progeria wordt veroorzaakt door een mutatie van het gen LMNA, of Lamin A. Dit gen ontdekking<\/a> werd gerapporteerd in het toonaangevende wetenschappelijke tijdschrift Nature.<\/p>\n

De ontdekking van het gen Progeria was het resultaat van intensieve samenwerking tussen wetenschappers, waaronder Dr. Leslie Gordon, medisch directeur van PRF, Dr. W. Ted Brown, een wereldexpert op het gebied van Progeria en voorzitter van de afdeling Humane Genetica van het Institute of Basic Research in Developmental Disabilities in New York, Dr. Tom Glover, een ontvanger van PRF-subsidie en hoogleraar aan de afdeling Humane Genetica van de University of Michigan, Dr. Francis Collins, directeur van het National Human Genome Research Institute (verantwoordelijk voor het in kaart brengen van het menselijk genoom) en hoofdauteur van het rapport, en eerste auteur Dr. Maria Eriksson, een postdoctoraal onderzoeker bij Dr. Collins.<\/p>\n

Hoe wordt Progeria vastgesteld?<\/h1>\n

Omdat we de locatie van de genmutatie begrijpen, kon PRF een Diagnostisch testprogramma<\/a><\/strong>. We kunnen nu kijken naar de specifieke genetische verandering, of mutatie, in het Progeria-gen dat leidt tot HGPS. Na een eerste klinische evaluatie (kijkend naar het uiterlijk en de medische dossiers van het kind), zal een bloedmonster van het kind worden getest op het Progeria-gen. Voor het eerst ooit is er een definitieve, wetenschappelijke manier om de kinderen te diagnosticeren. Dit zal leiden tot nauwkeurigere en eerdere diagnoses, zodat de kinderen de juiste zorg kunnen ontvangen.<\/p>\n

Klik hier<\/a> om meer te leren over de oorzaak van Progeria op moleculair niveau van Leven volgens Sam<\/a><\/em>, verteld door de medisch directeur van PRF, Dr. Leslie Gordon.<\/p>\n

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Aanmelden<\/h2>\n

voor onze<\/h2>\n

Nieuwsbrief!<\/h2>\n

[\/et_pb_cta][\/et_pb_column][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_cta button_url=\u201dhttps:\/\/progeriaresearch.donorsupport.co\/-\/XZHJVWZR\u201d button_text=\u201dDoneer nu\u201d admin_label=\u201dSamen vinden we de remedie!\u201d module_class=\u201dsign-btn\u201d _builder_version=\u201d4.16\u2033 header_font_size=\u201d25px\u201d background_color=\u201d#29327a\u201d animation_style=\u201dslide\u201d animation_direction=\u201dleft\u201d animation_intensity_slide=\u201d25%\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201dop|bureaublad\u201d body_font_size_tablet=\u201d\u201d body_font_size_phone=\u201d\u201d body_font_size_last_edited=\u201dop|bureaublad\u201d z_index_tablet=\u201d500\u2033 border_radii=\u201dop|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201daan\u201d button_bg_color__hover=\u201d#8fd2ed\u201d button_border_color__hover_enabled=\u201daan\u201d]<\/p>\n

Samen, wij<\/h2>\n

ZULLEN<\/em><\/h2>\n

vind de remedie!<\/h2>\n

[\/et_pb_cta][\/et_pb_column][et_pb_column type=\u201d1_2\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_image src=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2023\/06\/2023-footer-strip-5.png\u201d title_text=\u201d2023 voettekststrook 5\u2033 _builder_version=\u201d4.21.0\u2033 _module_preset=\u201dstandaard\u201d custom_margin=\u201d35px||||false|false\u201d global_colors_info=\u201d{}\u201d][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":"

[et_pb_section fb_built=\u201d1\u2033 fullwidth=\u201don\u201d disabled_on=\u201duit|uit|uit\u201d _builder_version=\u201d4.16\u2033 border_width_bottom=\u201d55px\u201d border_color_bottom=\u201d#29327a\u201d global_colors_info=\u201d{}\u201d][et_pb_fullwidth_header _builder_version=\u201d4.16\u2033 title_font_size=\u201d55\u2033 background_color=\u201d#29327a\u201d background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/About-Header.jpg\u201d background_position=\u201dcenter_left\u201d custom_padding=\u201d9vw||9vw||true\u201d custom_padding_tablet=\u201d\u201d custom_padding_phone=\u201d|56px||\u201d custom_padding_last_edited=\u201dop|bureaublad\u201d title_font_size_tablet=\u201d45px\u201d title_font_size_phone=\u201d40px\u201d title_font_size_last_edited=\u201dop|telefoon\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dachtergrondpositie: midden 18% !belangrijk;\u201d global_colors_info=\u201d{}\u201d] De wetenschap achter Progeria [\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 specialty=\u201don\u201d padding_left_1=\u201d35px\u201d padding_left_2=\u201d35px\u201d padding_2_tablet=\u201d|||0px\u201d padding_2_phone=\u201d|||0px\u201d padding_2_last_edited=\u201don|desktop\u201d module_class_1=\u201dsidebar-secondary-nav\u201d module_class=\u201dhandprint-bg\u201d _builder_version=\u201d4.16\u2033 background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png\u201d parallax=\u201daan\u201d parallax_method=\u201duit\u201d inner_width=\u201d100%\u201d inner_max_width=\u201d100%\u201d custom_padding=\u201d0|0px|54px|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d10px\u201d border_color_top=\u201d#8fd2ed\u201d use_custom_width=\u201daan\u201d width_unit=\u201duit\u201d custom_width_percent=\u201d100%\u201d [\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"\t\t\t\t[vc_row][vc_column][vc_custom_heading source=\"post_title\" font_container=\"tag:h1|text_align:center\" use_theme_fonts=\"yes\"][vc_column_text]\"\"Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, the leading cause of death worldwide. As with any person suffering from heart disease, the common events for Progeria children are high blood pressure, strokes, angina (chest pain due to poor blood flow to the heart itself), enlarged heart, and heart failure, all conditions associated with aging.\r\n\r\nThus, there is clearly a tremendous need for research in Progeria. Finding a cure for Progeria will not only help these children, but may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process.\r\n\r\nHutchinson-Gilford Progeria Syndrome (\"Progeria\", or \"HGPS\") is caused by a mutation in the gene called LMNA (pronounced, lamin - a). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria.\r\n\r\nPRF was the driving force behind finding the gene responsible for Progeria. A group of leading scientists from The Progeria Research Foundation's Genetics Consortium was able to isolate the Progeria gene in October 2002, and in April 2003, PRF led the announcement that Progeria is caused by a mutation of the gene LMNA, or Lamin A. This gene discovery was reported in the leading scientific journal Nature\u00a8.\r\n\r\nThe Progeria gene finding involved intensive collaboration between scientists including Dr. Leslie Gordon, PRF's Medical Director, Dr. W. Ted Brown, a world expert on Progeria and Chairman of New York's Institute of Basic Research in Developmental Disabilities' Department of Human Genetics, Dr. Tom Glover, a PRF grantee and Professor at University of Michigan's Department of Human Genetics, Dr. Francis Collins, Director of the National Human Genome Research Institute (responsible for mapping the human genome) and the senior author on the report, and first author Dr. Maria Eriksson, a postdoctoral fellow with Dr. Collins.\r\n

How is Progeria Diagnosed?<\/h1>\r\nNow that the gene mutation has been identified, The Progeria Research Foundation has created a Diagnostics Testing Program<\/a><\/strong>. We can now look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child's appearance and medical records), a sample of the child's blood will be tested for the Progeria gene. For the first time ever, there is a definitive, scientific way to diagnose the children. This will lead to more accurate and earlier diagnoses so that the children can receive proper care.[\/vc_column_text][\/vc_column][\/vc_row]\t\t","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-768","page","type-page","status-publish","hentry"],"yoast_head":"\nscience behind Progeria | The Progeria Research Foundation<\/title>\n<meta name=\"description\" content=\"The Science Behind Progeria have shown that children with Progeria are genetically predisposed to premature, progressive heart disease.\" \/>\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\/nl\/the-science-behind-progeria\/\" \/>\n<meta property=\"og:locale\" content=\"nl_NL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"science behind Progeria | The Progeria Research Foundation\" \/>\n<meta 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