[{"_1":2,"_103":-5,"_104":-5},"loaderData",{"_3":4,"_9":10},"root",{"_5":6,"_7":8},"locale","id","isCms",false,"routes/tags/$slug",{"_11":12,"_13":14,"_15":16,"_90":91,"_97":93,"_101":96,"_102":-5},"slug","penyakit-lupus","ads",[],"posts",[17],{"_6":18,"_19":20,"_11":21,"_22":23,"_24":25,"_26":27,"_28":29,"_30":31,"_32":33,"_34":35,"_36":37,"_38":39,"_40":41,"_42":43,"_44":45,"_46":47,"_48":49,"_50":51,"_52":45,"_53":54,"_55":56,"_57":58,"_59":60,"_87":88,"_68":89},"019bb79a-3943-710a-8591-c2dd05bcf088","title","Peneliti China temukan cacat gen penyebab utama lupus","cacat-gen-berupa-defisiensi-pld4-sebabkan-penyakit-lupus","main_id","019bb73f-297b-7103-96b7-87ea173dc182","main_name","Iptek","main_slug","iptek-id","date","2025-09-14 16:19:31","author_id","019bb745-b426-73a2-9a49-5ddcb6765ea0","author_name","indowin","full_name","Indonesia Window","author_firstname","Indonesia","author_slug","indonesiawindow","content","

Cacat gen berupa defisiensi PLD4 dapat menyebabkan systemic lupus erythematosus (SLE), penyakit autoimun kronis dan kompleks yang memengaruhi jutaan pasien di seluruh dunia.

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Hangzhou, China (Xinhua/Indonesia Window) – Sebuah penelitian terbaru yang dipimpin oleh tim ilmuwan China berhasil mengidentifikasi cacat gen, yakni defisiensi PLD4, yang dapat menyebabkan systemic lupus erythematosus (SLE), penyakit autoimun kronis dan kompleks yang memengaruhi jutaan pasien di seluruh dunia. Temuan ini, yang telah dipublikasikan di dalam jurnal Nature pada Rabu (10/9), memberikan wawasan penting untuk terapi tertarget di masa depan.

Penelitian tersebut dilakukan oleh tim dari Laboratorium Liangzhu di Universitas Zhejiang, dengan Liu Zhihong, Yu Xiaomin, dan Zhou Qing sebagai para penulisnya.

SLE memiliki ciri heterogenitas yang tinggi, sangat bervariasi dalam hal manifestasi klinis maupun latar belakang genetiknya, sehingga telah lama memperumit upaya untuk memahami patogenesisnya.

Melalui pengurutan exome utuh, tim peneliti mengidentifikasi mutasi resesif pada gen PLD4 pada lima pasien SLE yang mengalami nefritis lupus. Gen PLD4 diekspresikan dalam sel-sel kekebalan utama, termasuk sel dendritik, sel B, dan monosit. Defisiensi PLD4 terbukti memicu peradangan berkelanjutan dan aktivasi autoimun.

Validasi lebih lanjut pada model tikus menunjukkan bahwa baricitinib, yang merupakan inhibitor JAK, secara efektif mengurangi gejala seperti penurunan berat badan, produksi autoantibodi, dan peradangan jaringan pada tikus yang memiliki cacat PLD4.

Terobosan ini menunjukkan bahwa baricitinib dapat menawarkan terapi tertarget untuk pasien SLE dengan mutasi PLD4, sehingga membuka jalan bagi pengobatan berbasis genotipe yang dipersonalisasi dalam perawatan penyakit lupus.

Laporan: Redaksi","excerpt","Cacat gen berupa defisiensi PLD4 dapat menyebabkan systemic lupus erythematosus (SLE), penyakit autoimun kronis dan kompleks yang memengaruhi jutaan pasien di s...","seo_kw","cacat gen berupa defisiensi","seo_title","Cacat gen berupa defisiensi PLD4 sebabkan penyakit lupus","seo_description","Cacat gen berupa defisiensi PLD4 dapat menyebabkan 'systemic lupus erythematosus' (SLE), penyakit autoimun kronis dan kompleks.","image","2025/09/mjh-shikder-bJj_81Zois-unsplash-1-1-1-1-1.jpg","image_alt","image_caption","Ilustrasi. (MJH SHIKDER on Unsplash)","image_url","https://indonesiawindow.sgp1.cdn.digitaloceanspaces.com/2025/09/mjh-shikder-bJj_81Zois-unsplash-1-1-1-1-1.jpg","status","publish","tags",[61,76,82],{"_6":62,"_63":64,"_65":66,"_11":66,"_50":-5,"_67":-5,"_68":69,"_70":69,"_71":72},"019bb745-0044-7069-937c-df462e6a1c3f","old_id",26151,"name","genetika","description","created_at","2026-01-13T12:11:51.000000Z","updated_at","pivot",{"_73":18,"_74":62,"_68":75,"_70":75},"post_id","tag_id","2026-01-13T13:44:56.000000Z",{"_6":77,"_63":78,"_65":79,"_11":12,"_50":-5,"_67":-5,"_68":80,"_70":80,"_71":81},"019bb745-0ac9-722d-8b48-44f726de3eca",27198,"penyakit lupus","2026-01-13T12:11:53.000000Z",{"_73":18,"_74":77,"_68":75,"_70":75},{"_6":83,"_63":84,"_65":85,"_11":85,"_50":-5,"_67":-5,"_68":80,"_70":80,"_71":86},"019bb745-0ad0-739c-8a40-6f927f55625f",27200,"autoimun",{"_73":18,"_74":83,"_68":75,"_70":75},"comments",[],"2025-09-14","pagination",{"_92":93,"_94":93,"_95":96,"_97":93,"_98":93,"_99":100},"count",1,"total","perPage",12,"currentPage","totalPages","links",{},"pageSize","error","actionData","errors"]