{"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\/id\/the-science-behind-progeria\/","title":{"rendered":"Ilmu di Balik Progeria"},"content":{"rendered":"

Bahasa Indonesia: [et_pb_section fb_built=\u201d1\u2033 lebar_penuh=\u201daktif\u201d dinonaktifkan_aktif=\u201dnonaktif|nonaktif|nonaktif\u201d _builder_version=\u201d4.16\u2033 lebar_batas_bawah=\u201d55px\u201d warna_batas_bawah=\u201d#29327a\u201d info_warna_global=\u201d{}\u201d][et_pb_fullwidth_header _builder_version=\u201d4.16\u2033 ukuran_font_judul=\u201d55\u2033 warna_latar_belakang=\u201d#29327a\u201d gambar_latar_belakang=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/About-Header.jpg\u201d posisi_latar_belakang=\u201dtengah_kiri\u201d bantalan_khusus=\u201d9vw||9vw||benar\u201d bantalan_khusus_tablet=\u201d\u201d bantalan_khusus_ponsel=\u201d|56px||\u201d custom_padding_last_edited=\u201dpada|desktop\u201d ukuran_font_judul_tablet=\u201d45px\u201d ukuran_font_judul_ponsel=\u201d40px\u201d ukuran_font_judul_terakhir_edited=\u201dpada|ponsel\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dposisi_latar belakang: tengah 18% !penting;\u201d info_warna_global=\u201d{}\u201d]<\/p>\n

Ilmu Pengetahuan<\/h1>\n

Di Balik Progeria<\/h1>\n

[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 gunakan_talang_khusus=\u201daktif\u201d lebar_talang=\u201d1\u2033 spesialisasi=\u201daktif\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=\u201daktif|desktop\u201d kelas_modul_1=\u201dnavigasi-sekunder-bilah-sisi\u201d kelas_modul=\u201dcetak-tangan-bg\u201d versi_pembuat=\u201d4.16\u2033 gambar_latar_belakang=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png\u201d paralaks=\u201daktif\u201d metode_paralaks=\u201dnonaktif\u201d lebar_dalam=\u201d100%\u201d lebar_maks_dalam=\u201d100%\u201d bantalan_khusus=\u201d0|0px|54px|0px|salah|salah\u201d indeks_z_tablet=\u201d500\u2033 lebar_batas_atas=\u201d10px\u201d warna_batas_atas=\u201d#8fd2ed\u201d gunakan_lebar_khusus=\u201daktif\u201d satuan_lebar=\u201dmati\u201d persentase_lebar_khusus=\u201d100%\u201d info_warna_global=\u201d{}\u201d][et_pb_column jenis=\u201d1_4\u2033 versi_pembuat=\u201d4.16\u2033 bantalan_khusus=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_sidebar area=\u201det_pb_widget_area_18\u2033 dinonaktifkan_aktif=\u201daktif|aktif|nonaktif\u201d kelas_modul=\u201dsubpage-sidebars\u201d _builder_version=\u201d4.16\u2033 gaya_animasi=\u201dmemudar\u201d z_index_tablet=\u201d500\u2033 lebar_batas_kanan=\u201d5px\u201d global_colors_info=\u201d{}\u201d]
\n[\/et_pb_sidebar][\/et_pb_column][et_pb_column tipe=\u201d3_4\u2033 kolom_khusus=\u201d3\u2033 _builder_version=\u201d4.16\u2033 bantalan_khusus=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_row_inner custom_padding_last_edited=\u201ddi|ponsel\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_ponsel=\u201d\u201d animation_direction=\u201datas\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 ukuran_latar_belakang=\u201dawal\u201d posisi_latar_belakang=\u201dkiri_atas\u201d pengulangan_latar_belakang=\u201dulangi\u201d indeks_z_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

\"\"Anak-anak dengan Progeria secara genetik memiliki kecenderungan untuk mengalami penyakit jantung progresif dini. Kematian terjadi hampir semata-mata karena penyakit jantung yang menyebar luas, penyebab utama kematian di seluruh dunia. Seperti halnya setiap orang yang menderita penyakit jantung, kejadian umum pada anak-anak Progeria adalah tekanan darah tinggi, stroke, angina (nyeri dada karena aliran darah yang buruk ke jantung itu sendiri), pembesaran jantung, dan gagal jantung, semua kondisi yang terkait dengan penuaan.<\/p>\n

Oleh karena itu, jelas ada kebutuhan besar untuk penelitian tentang Progeria. Menemukan obat untuk Progeria tidak hanya akan membantu anak-anak ini, tetapi juga dapat memberikan kunci untuk mengobati jutaan orang dewasa yang menderita penyakit jantung dan stroke yang terkait dengan proses penuaan alami.<\/p>\n

Sindrom Progeria Hutchinson-Gilford (\u201cProgeria\u201d, atau \u201cHGPS\u201d) disebabkan oleh mutasi pada gen yang disebut LMNA (diucapkan, lamin \u2013 a). Gen LMNA menghasilkan protein Lamin A, yang merupakan perancah struktural yang menyatukan inti sel. Para peneliti kini percaya bahwa protein Lamin A yang rusak membuat inti sel tidak stabil. Ketidakstabilan sel tersebut tampaknya menyebabkan proses penuaan dini pada Progeria.<\/p>\n

PRF merupakan kekuatan pendorong di balik penemuan gen yang bertanggung jawab atas Progeria. Sekelompok ilmuwan terkemuka dari Konsorsium Genetika Yayasan Penelitian Progeria berhasil mengisolasi gen Progeria pada bulan Oktober 2002, dan pada bulan April 2003, PRF memimpin pengumuman bahwa Progeria disebabkan oleh mutasi gen LMNA, atau Lamin A. penemuan gen<\/a> dilaporkan dalam jurnal ilmiah terkemuka Nature.<\/p>\n

Penemuan gen Progeria melibatkan kolaborasi intensif antara ilmuwan termasuk Dr. Leslie Gordon, Direktur Medis PRF, Dr. W. Ted Brown, pakar dunia tentang Progeria dan Ketua Departemen Genetika Manusia di Institut Penelitian Dasar New York untuk Disabilitas Perkembangan, Dr. Tom Glover, penerima hibah PRF dan Profesor di Departemen Genetika Manusia Universitas Michigan, Dr. Francis Collins, Direktur Institut Penelitian Genom Manusia Nasional (bertanggung jawab untuk memetakan genom manusia) dan penulis senior pada laporan tersebut, dan penulis pertama Dr. Maria Eriksson, seorang peneliti pascadoktoral dengan Dr. Collins.<\/p>\n

Bagaimana Progeria Didiagnosis?<\/h1>\n

Karena kami memahami lokasi mutasi gen, PRF mampu membangun Program Pengujian Diagnostik<\/a><\/strong>. Kini kita dapat melihat perubahan genetik spesifik, atau mutasi, pada gen Progeria yang menyebabkan HGPS. Setelah evaluasi klinis awal (melihat penampilan dan catatan medis anak), sampel darah anak akan diuji untuk mengetahui keberadaan gen Progeria. Untuk pertama kalinya, ada cara ilmiah yang pasti untuk mendiagnosis anak-anak. Ini akan menghasilkan diagnosis yang lebih akurat dan lebih awal sehingga anak-anak dapat menerima perawatan yang tepat.<\/p>\n

Klik Di Sini<\/a> untuk mempelajari lebih lanjut tentang penyebab Progeria pada tingkat molekuler dari Hidup Menurut Sam<\/a><\/em>, dinarasikan oleh Direktur Medis PRF, Dr. Leslie Gordon.<\/p>\n

Bahasa Indonesia: [\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 kelas_modul=\u201dfooter\u201d _builder_version=\u201d4.21.0\u2033 warna_latar_belakang=\u201d#29327a\u201d margin_khusus=\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 terkunci=\u201dmati\u201d global_colors_info=\u201d{}\u201d][et_pb_row struktur_kolom=\u201d1_4,1_4,1_2\u2033 buat_sama=\u201daktif\u201d kelas_modul=\u201d et_pb_row_lebar_penuh\u201d _builder_version=\u201d4.16\u2033 lebar=\u201d89%\u201d lebar_tablet=\u201d80%\u201d lebar_ponsel=\u201d\u201d lebar_terakhir_diedit=\u201daktif|desktop\u201d lebar_maks=\u201d89%\u201d lebar_tablet=\u201d80%\u201d lebar_ponsel_maks=\u201d\u201d max_width_last_edited=\u201dpada|desktop\u201d z_index_tablet=\u201d500\u2033 buat_lebar_penuh=\u201daktif\u201d unit_lebar=\u201dnonaktif\u201d persentase_lebar_khusus=\u201d100%\u201d info_warna_global=\u201d{}\u201d][et_pb_column jenis=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 bantalan_khusus=\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=\u201dDaftar Sekarang\u201d admin_label=\u201dDaftar untuk 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=\u201daktif|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201daktif\u201d button_bg_color__hover=\u201d#8fd2ed\u201d button_border_color__hover_enabled=\u201daktif\u201d]<\/p>\n

Mendaftar<\/h2>\n

untuk Kami<\/h2>\n

Buletin!<\/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=\u201dDonasi Sekarang\u201d admin_label=\u201dBersama-sama, kita akan menemukan obatnya!\u201d modul_kelas=\u201dtanda-btn\u201d _builder_version=\u201d4.16\u2033 ukuran_font_header=\u201d25px\u201d warna_latar belakang=\u201d#29327a\u201d gaya_animasi=\u201dslide\u201d arah_animasi=\u201dkiri\u201d intensitas_animasi_slide=\u201d25%\u201d ukuran_font_header_tablet=\u201d\u201d ukuran_font_header_phone=\u201d30px\u201d ukuran_font_header_last_edited=\u201dpada|desktop\u201d ukuran_font_body_tablet=\u201d\u201d ukuran_font_body_phone=\u201d\u201d ukuran_font_body_last_edited=\u201dpada|desktop\u201d z_index_tablet=\u201d500\u2033 radius_batas=\u201dpada|25px|25px|25px|25px\u201d info_warna_global=\u201d{}\u201d warna_latar_belakang_tombol__hover_enabled=\u201dpada\u201d tombol_warna_latar_belakang_hover=\u201d#8fd2ed\u201d tombol_warna_batas_belakang_hover_diaktifkan=\u201daktif\u201d]<\/p>\n

Bersama-sama, kita<\/h2>\n

AKAN<\/em><\/h2>\n

temukan obatnya!<\/h2>\n

[\/et_pb_cta][\/et_pb_column][et_pb_column tipe=\u201d1_2\u2033 _builder_version=\u201d4.16\u2033 bantalan_khusus=\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 footer strip 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":"

Bahasa Indonesia: [et_pb_section fb_built=\u201d1\u2033 lebar_penuh=\u201daktif\u201d dinonaktifkan_aktif=\u201dnonaktif|nonaktif|nonaktif\u201d _builder_version=\u201d4.16\u2033 lebar_batas_bawah=\u201d55px\u201d warna_batas_bawah=\u201d#29327a\u201d info_warna_global=\u201d{}\u201d][et_pb_fullwidth_header _builder_version=\u201d4.16\u2033 ukuran_font_judul=\u201d55\u2033 warna_latar_belakang=\u201d#29327a\u201d gambar_latar_belakang=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/About-Header.jpg\u201d posisi_latar_belakang=\u201dtengah_kiri\u201d bantalan_khusus=\u201d9vw||9vw||benar\u201d bantalan_khusus_tablet=\u201d\u201d bantalan_khusus_ponsel=\u201d|56px||\u201d custom_padding_last_edited=\u201dpada|desktop\u201d ukuran_font_judul_tablet=\u201d45px\u201d ukuran_font_judul_ponsel=\u201d40px\u201d ukuran_font_judul_tablet=\u201d500\u2033 custom_css_main_element=\u201dposisi-latar belakang: tengah 18% !penting;\u201d global_colors_info=\u201d{}\u201d] Sains di Balik 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=\u201dmati\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=\u201daktif\u201d width_unit=\u201dmati\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\/id\/the-science-behind-progeria\/\" \/>\n<meta property=\"og:locale\" content=\"id_ID\" \/>\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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