STUDI IN SILICO: PREDIKSI PENGARUH MUTASI TITIK GEN VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-2 (VEGFR2) TERHADAP STRUKTUR SEKUNDER PROTEIN

Karina Karina; Imam Rosadi; Iis Rosliana; Komang A. Wahyuningsih

doi:10.15408/kauniyah.v12i2.11804

STUDI IN SILICO: PREDIKSI PENGARUH MUTASI TITIK GEN VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-2 (VEGFR2) TERHADAP STRUKTUR SEKUNDER PROTEIN

Karina Karina, Imam Rosadi, Iis Rosliana, Komang A. Wahyuningsih

Abstract

Angiogenesis merupakan proses penting untuk pertumbuhan dan regenerasi sel. Salah satu protein yang berperan dalam angiogenesis adalah vascular endothelial growth factor (VEGF). VEGF akan berinteraksi dengan reseptornya seperti vascular endothelial growth factor receptor-2 (VEGFR2) untuk meregulasi proses angiogenesis. Mutasi pada gen VEGFR2 pada manusia dilaporkan dapat menyebabkan penyakit strawberry mark (hemangioma). Oleh karena itu, perlu dilakukan studi dan penelusuran terkait mutasi yang berperan dalam terbentuknya hemangioma. Beberapa tahapan yang dilakukan untuk menganalisis pengaruh mutasi tersebut diantaranya dengan melakukan penelusuran informasi dasar dan komposisi gen VEGFR2, analisis ortolog dan paralog gen VEGFR2, dan analisis struktur sekunder protein VEGFR2 manusia. Hasilnya menunjukkan bahwa mutasi VEGFR2 pada basa ke-3741 yaitu sitosin (C) menjadi timin (T) dilaporkan ditemukan pada jaringan tumor hemangioma. Perubahan basa ke-3741 sitosin menjadi timin mengakibatkan perubahan asam amino prolin menjadi serin yang dapat berdampak pada regulasi ekspresi VEGF. Ortolog dan paralog dari gen VEGFR2 manusia adalah gen VEGFR2 mencit dan gen fibroblast growth factor receptor 1 (FGFR1) manusia. Hasil analisis pengaruh mutasi terhadap bentuk dan struktur protein menunjukkan tidak ada perubahan yang signifikan, namun posisi mutasi di bagian ekstraseluler sel diduga mempengaruhi regulasi ekspresi VEGF melalui ikatan ligan-reseptor.

Keywords

Angiogenesis, hemangioma, mutasi, VEGF, VEGFR2

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