Kajian Bioinformatika Uncoupling Protein 2 (UCP2) dan Mutasi Ala55Val UCP2 Pada Obesitas dan Diabetes Melitus Tipe 2 (DMT2)

Tripanjiasih Susmiarsih, Hidayat Trimarsanto

Abstract


Pendahuluan. Kemajuan pengetahuan suatu penyakit sangat didukung oleh kajian tingkat molekuler sampai klinis. Bioinformatika menjembati perkembangan pengetahuan analisis seluler dan molekular dengan klinis. Selain dipengaruhi faktor lingkungan, faktor genetik diketahui berperan dalam   patomekanisme penyakit obesitas dan DMT2. UCP2 berpengaruh terhadap BMI (basal mass index) pada penderita obesitas dan berpengaruh terhadap sekresi insulin pada penderita diabetes melitus tipe 2. Kajian ini bertujuan mengetahui informasi genetik gen dan protein UCP2 serta peran mutasi Ala55Val pada obesitas dan diabetes melitus tipe 2. Metode.  Kajian  bioinformatika  gen  dan  mutasi  UCP2  menggunakan  data  base  situs  http://www.ncbi.nlm.gov,

http://www.uniprot.org  dan  http://www.ensembl.org.  Profil, struktur  dan  fungsi  protein UCP2  dikaji  dengan  situs http://www.expasy.org, http://www.cbs.dtu/dk, http://www.wolfpsort.org,       http://bioinf.cs.ucl.ac.uk/psipred/ dan http://www.pdb.org. Disain primer dan titik mutasi Ala55Val UCP2 dikaji dengan situs Primer3 dan REBASE. Hasil dan kesimpulan. Gen UCP2 Homo sapiens (NC_000011.9) terdiri atas 8 ekson dan 7 intron dengan panjang basa nukleotida 8174 bp. Protein UCP2 (NP_003346)  mempunyai  309 asam  amino, merupakan protein integral yang berlokasi di membran  mitokondria bagian dalam. Struktur protein terdiri atas heliks dan koil.  Fungsi UCP2 sebagai protein transporter, uncoupling proton pada fosforilasi oksidatif, termogenesis dan keseimbangan energi dengan cara mengubah gradien proton. Mutasi Ala55Val dapat dianalisis dengan mengamplifikasi target sekuen yang diinginkan dengan cara mendesain primer dan titik mutasi dideteksi dengan enzim retriksi yang mengenali titik tersebut. Ala55Val merupakan mutasi missense yang terjadi di posisi mRNA ke 164, mengubah GCC menjadi GTC, mengubah translasi protein nomer 55 alanin menjadi valin. Titik mutasi ini berdekatan dengan situs fosforilasi Protein C Kinase (PCK) protein, situs yang berperan mengatur jumlah ATP dalam proses termogenesis dan sekresi insulin. Informasi genetik gen, protein UCP2 serta peranannya dalam obesitas dan diabetes melitus tipe 2  dapat diperoleh dengan menggunakan database bioinformatika.


Keywords


Uncoupling protein, Primer desain and Missense mutation

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DOI: https://doi.org/10.33476/mkp.v5i1.1102

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