{"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\/it\/the-science-behind-progeria\/","title":{"rendered":"La scienza dietro la progeria"},"content":{"rendered":"

Italiano: [et_pb_section fb_built=\u201d1\u2033 fullwidth=\u201don\u201d disabled_on=\u201doff|off|off\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="on|desktop" title_font_size_tablet="45px" title_font_size_phone="40px" title_font_size_last_edited="on|phone" z_index_tablet="500" custom_css_main_element="background-position: center 18% !important;" global_colors_info="{}"]<\/p>\n

La scienza<\/h1>\n

Dietro la Progeria<\/h1>\n

[\/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=\u201don\u201d parallax_method=\u201doff\u201d larghezza_interna=\u201d100%\u201d larghezza_interna_massima=\u201d100%\u201d imbottitura_personalizzata=\u201d0|0px|54px|0px|falso|falso\u201d z_index_tablet=\u201d500\u2033 larghezza_interna_massima=\u201d10px\u201d colore_interna_massima=\u201d#8fd2ed\u201d usa_larghezza_personalizzata=\u201don\u201d unit\u00e0_di_larghezza=\u201doff\u201d percentuale_larghezza_personalizzata=\u201d100%\u201d info_colori_globali=\u201d{}\u201d][et_pb_column tipo=\u201d1_4\u2033 versione_builder=\u201d4.16\u2033 imbottitura_personalizzata=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_sidebar area=\u201det_pb_widget_area_18\u2033 disabled_on=\u201don|on|off\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 tipo=\u201d3_4\u2033 colonne_speciali=\u201d3\u2033 _builder_version=\u201d4.16\u2033 imbottitura_personalizzata=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_row_inner custom_padding_last_edited=\u201don|phone\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=\u201dtop\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=\u201diniziale\u201d background_position=\u201dtop_left\u201d background_repeat=\u201dripeti\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

\"\"I bambini con Progeria sono geneticamente predisposti a una cardiopatia prematura e progressiva. La morte avviene quasi esclusivamente a causa di una cardiopatia diffusa, la principale causa di morte nel mondo. Come per qualsiasi persona che soffre di una cardiopatia, gli eventi comuni per i bambini con Progeria sono ipertensione, ictus, angina (dolore al petto dovuto a un flusso sanguigno scarso verso il cuore stesso), ingrossamento del cuore e insufficienza cardiaca, tutte condizioni associate all'invecchiamento.<\/p>\n

Quindi, \u00e8 chiaro che c'\u00e8 un enorme bisogno di ricerca sulla Progeria. Trovare una cura per la Progeria non solo aiuter\u00e0 questi bambini, ma potrebbe fornire le chiavi per curare milioni di adulti con malattie cardiache e ictus associati al naturale processo di invecchiamento.<\/p>\n

La sindrome di Hutchinson-Gilford Progeria ("Progeria", o "HGPS") \u00e8 causata da una mutazione nel gene chiamato LMNA (pronunciato, lamin - a). Il gene LMNA produce la proteina Lamin A, che \u00e8 l'impalcatura strutturale che tiene insieme il nucleo di una cellula. I ricercatori ora credono che la proteina Lamin A difettosa renda il nucleo instabile. Questa instabilit\u00e0 cellulare sembra portare al processo di invecchiamento precoce nella Progeria.<\/p>\n

PRF \u00e8 stata la forza trainante dietro la scoperta del gene responsabile della Progeria. Un gruppo di scienziati di spicco del Genetics Consortium della Progeria Research Foundation \u00e8 stato in grado di isolare il gene della Progeria nell'ottobre 2002 e nell'aprile 2003, PRF ha guidato l'annuncio che la Progeria \u00e8 causata da una mutazione del gene LMNA, o Lamin A. Questo scoperta genetica<\/a> \u00e8 stato riportato sulla principale rivista scientifica Nature.<\/p>\n

La scoperta del gene della Progeria ha richiesto un'intensa collaborazione tra scienziati tra cui il dott. Leslie Gordon, direttore medico del PRF, il dott. W. Ted Brown, esperto mondiale di Progeria e presidente del dipartimento di genetica umana dell'Institute of Basic Research in Developmental Disabilities di New York, il dott. Tom Glover, beneficiario del PRF e professore presso il dipartimento di genetica umana dell'Universit\u00e0 del Michigan, il dott. Francis Collins, direttore del National Human Genome Research Institute (responsabile della mappatura del genoma umano) e autore principale del rapporto, e la prima autrice, la dott. ssa Maria Eriksson, ricercatrice post-dottorato del dott. Collins.<\/p>\n

Come viene diagnosticata la progeria?<\/h1>\n

Poich\u00e9 comprendiamo la posizione della mutazione genetica, PRF \u00e8 stata in grado di stabilire un Programma di test diagnostici<\/a><\/strong>. Ora possiamo esaminare la specifica modifica genetica, o mutazione, nel gene della Progeria che porta all'HGPS. Dopo una valutazione clinica iniziale (osservando l'aspetto del bambino e la cartella clinica), un campione del sangue del bambino verr\u00e0 analizzato per il gene della Progeria. Per la prima volta in assoluto, esiste un modo scientifico e definitivo per diagnosticare i bambini. Ci\u00f2 porter\u00e0 a diagnosi pi\u00f9 accurate e precoci in modo che i bambini possano ricevere cure adeguate.<\/p>\n

Clic Qui<\/a> per saperne di pi\u00f9 sulla causa della Progeria a livello molecolare da La vita secondo Sam<\/a><\/em>, narrato dal direttore medico della PRF, la dottoressa Leslie Gordon.<\/p>\n

Italiano: [\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 module_class=\u201dfooter\u201d _builder_version=\u201d4.21.0\u2033 background_color=\u201d#29327a\u201d custom_margin=\u201d-2px|||||\u201d custom_padding=\u201d0|0px|0|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d12px\u201d border_color_top=\u201d#00b2e2\u2033 global_module=\u201d133\u2033 locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_row column_structure=\u201d1_4,1_4,1_2\u2033 make_equal=\u201don\u201d module_class=\u201d et_pb_row_fullwidth\u201d _builder_version=\u201d4.16\u2033 width=\u201d89%\u201d width_tablet=\u201d80%\u201d width_phone=\u201d\u201d width_last_edited=\u201don|desktop\u201d max_width=\u201d89%\u201d max_width_tablet=\u201d80%\u201d max_width_phone=\u201d\u201d max_width_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 make_fullwidth=\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_cta button_url=\u201dhttps:\/\/www.progeriaresearch.org\/newsletter-signup\/\u201d button_text=\u201dIscriviti ora\u201d admin_label=\u201dIscriviti alla newsletter\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=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_radii="on|25px|25px|25px|25px" global_colors_info="{}" button_bg_color__hover_enabled="on" button_bg_color__hover="#8fd2ed" button_border_color__hover_enabled="on"]<\/p>\n

Iscrizione<\/h2>\n

per il nostro<\/h2>\n

Iscriviti alla newsletter!<\/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=\u201dFai una donazione ora\u201d admin_label=\u201dInsieme troveremo la cura!\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=\u201don|desktop\u201d body_font_size_tablet=\u201d\u201d body_font_size_phone=\u201d\u201d body_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_radii=\u201don|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201don\u201d colore_bg_pulsante__hover=\u201d#8fd2ed\u201d colore_bordo_pulsante__hover_abilitato=\u201don\u201d]<\/p>\n

Insieme, noi<\/h2>\n

VOLERE<\/em><\/h2>\n

trova la cura!<\/h2>\n

[\/et_pb_cta][\/et_pb_column][et_pb_column tipo=\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=\u201dstriscia pi\u00e8 di pagina 2023 5\u2033 _builder_version=\u201d4.21.0\u2033 _module_preset=\u201ddefault\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":"

Italiano: [et_pb_section fb_built=\u201d1\u2033 fullwidth=\u201don\u201d disabled_on=\u201doff|off|off\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="on|desktop" title_font_size_tablet="45px" title_font_size_phone="40px" title_font_size_last_edited="on|phone" z_index_tablet="500" custom_css_main_element="background-position: center 18% !important;" global_colors_info=\u201d{}\u201d] La scienza dietro la 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=\u201don\u201d parallax_method=\u201doff\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 [\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\/it\/the-science-behind-progeria\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\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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