Bioinformatics Approach towards Transcriptomics of Filaggrin
2016, Journal of Agromedicine and Medical Sciences
https://doi.org/10.19184/AMS.V2I3.3254Abstract
Filaggrin, atau filamen yang menggabungkan protein, adalah salah satu protein struktural penting yang berfungsi untuk pengembangan, pemeliharaan, dan pembentukkan kulit sebagai penghalang utuh. Produk breakdown filaggrin mengatur hidrasi kulit; berkontribusi pada pH asam dari kulit, yang pada gilirannya sangat penting untuk aktivitas berbagai protease stratum korneum dalam deskuamasi dan sintesis lipid. Filaggrin diproduksi oleh keratinosit granular sebagai prekursor besar yang disebut profilaggrin, yang disandikan oleh gen FLG, terletak di kompleks diferensiasi epidermal pada kromosom 1 (lokus 1q21). Lokus tersebut berisi sekelompok gen yang terlibat dalam diferensiasi epidermal. Kekurangan filaggrin memiliki beberapa konsekuensi pada organisasi dan fungsi epidermal dengan implikasi penting seperti risiko yang lebih tinggi untuk penyakit atopik atau infeksi mikroba. Mutasi FLG, gen yang mengkodekan filaggrin, telah terbukti menyebabkan ichthyosis vulgaris, meningkatkan risiko dermatitis atopik dan penyakit atopik lain. Kajian ini meneliti gen FLG berdasarkan pendekatan bioinformatika untuk mencari conserved region dari perwakilan mamalia yang menyandikan coding (m) dan non coding (nc) RNA. Diharapkan ekspresi mRNA dapat digunakan sebagai agen diagnostik dan terapetik terhadap defisiensi dan mutasi filaggrin.
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