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"Defisiensi enzim 6-pyruvoyl tetrahydropterin synthase PTPS merupakan salah satu penyakit yang disebabkan oleh aktivitas enzim PTPS. Enzim PTPS memiliki peran dalam proses biosintesis tetrahydrobiopterin BH4. Defisiensi enzim PTPS menyebabkan gangguan untuk proses biosintesis BH4 sehingga, tidak dapat mengubah senyawa fenilalanin menjadi senyawa tirosin, disebut hyperphenylalanemia HPA. Defisiensi enzim PTPS terjadi akibat adanya mutasi pada gen PTS, dapat mengubah struktur dan fungsi dari asam amino yang dihasilkan. Penelitian tersebut bertujuan untuk menganalisis mutasi gen PTS ekson 1 dan ekson 3--4 yang terjadi pada penderita defisiensi enzim PTPS di Indonesia. Sampel DNA yang digunakan adalah hasil isolasi DNA darah pada tiga penderita defisiensi enzim PTPS di Indonesia dan 50 individu normal 25 laki-laki dan 25 perempuan. Sekuens gen PTS pada ekson 1 dan ekson 3--4 dari sampel tersebut diamplifikasi menggunakan metode PCR. Hasil dari proses PCR divisualisasikan menggunakan elektroforesis gel, kemudian disekuensing menggunakan metode automated Sanger sequencing. Hasil yang didapat dalam peneltian ini adalah tidak ditemukan mutasi pada penderita defisiensi enzim PTPS di ekson 1 dan ekson 3--4, namun ditemukan adanya mutasi di intron 4, yang bersifat novel yaitu IVS4 5T>C dan IVS4 6G>T.

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The 6 pyruvoyl tetrahydropterin synthase PTPS enzyme deficiency is one of the diseases caused by the activity of enzyme PTPS. The PTPS enzyme has a role in the biosynthesis of tetrahydrobiopterin BH4, when the enzyme is disturbed, it can not convert phenylalanine into a tyrosine, called hyperphenylalanemia HPA. The PTPS enzyme deficiency caused a disruption BH4 biosynthesis so, can not convert phenylalanine into a tyrosine, called hyperphenylalanemia HPA. PTPS enzyme deficiency occurs due mutations in the PTS gene, can changed the structure and function of the amino acids produced.

This aim of this research are for analyze the mutation of exon 1 and exon 3 4 in PTS gene of patients with PTPS enzyme deficiency in Indonesia. DNA samples were extracted from the blood three patients with PTPS enzyme deficiency in Indonesia and 50 normal individuals 25 male and 25 female. The DNA samples were amplified using PCR method.

The results of the PCR process were visualized using gel electrophoresis, then were sequenced using the automated Sanger sequencing method. This study figure of that were no mutations found in patients with PTPS enzyme deficiency in exon 1 and exon 3 4, but two novel mutation found in intron 4 which are IVS4 5T C and IVS4 6G T."

"Penyakit Pompe (Pompe disease (OMIM 232300)) merupakan suatu penyakit genetik autosomal resesif. Penyakit Pompe terjadi karena adanya varian patogenik pada gen alpha-glucosidase (GAA) yang terletak pada lokus 17q25.3 dan menyebabkan minimnya enzim GAA fungsional yang diproduksi serta mengakibatkan akumulasi glikogen secara masif pada lisosom yang berujung pada kerusakan sel dan disfungsi organ seperti kardiomegali, hepatomegali, dan kelemahan otot. Penelitian mengenai analisis varian gen GAA pada pasien penyakit Pompe telah dilakukan di berbagai negara, namun belum di Indonesia. Penelitian ini dilakukan untuk mendeteksi dan menganalisis mutasi gen GAA ekson 10—20 pada pasien penyakit Pompe di Indonesia. Penelitian dilakukan dengan menggunakan isolat DNA dari satu pasien penyakit Pompe dan 20 individu normal yang berasal dari sampel darah. Sebanyak enam pasang primer telah berhasil mengamplifikasi ekson 10—20 dan mendapatkan sekuens pada masingmasing sampel melalui automated Sanger sequencing. Berdasarkan analisis data sekuensing yang dihasilkan, didapatkan delapan temuan yaitu c.1581G>A (p.Arg527=) pada ekson 11, c.1726G>A (p.Gly576Ser) pada ekson 12, c.1942G>A (p.Gly648Ser) pada ekson 14, c.2065G>A (p.Glu689Lys) pada ekson 15, c.2133A>G (p.Thr711=) pada ekson 15, c.2338G>A (p.Val780Ile) pada ekson 17, c.2446G>A (p.Val816Ile) pada ekson 17, dan c.2553G>A (p.Gly851=) pada ekson 18. Hasil analisis varian dalam penelitian ini mendapatkan varian-varian yang reported pada beberapa populasi di dunia seperti populasi India dan Thailand.

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Pompe disease (OMIM 232300) is an autosomal recessive genetic disease. Pompe disease occurs due to a pathogenic variant of the alpha-glucosidase (GAA) gene located at locus 17q25.3. It causes a lack of functional GAA enzymes produced and results in massive glycogen accumulation in lysosomes, leading to cell damage and organ dysfunction such as cardiomegaly, hepatomegaly, and muscle weakness. Research on the analysis of GAA gene variants in patients with Pompe disease has been carried out in various countries but not in Indonesia. This study was conducted to detect and analyze exon 10-20 GAA gene mutations in Pompe disease patients in Indonesia. The study was conducted using DNA isolates from one patient with Pompe disease and 20 normal individuals from blood samples. Six pairs of primers have successfully amplified exons 10—20 and obtained sequences for each sample through automated Sanger sequencing. Based on the analysis of the resulting sequencing data, eight findings were obtained, namely c.1581G>A (p.Arg527=) in exon 11, c.1726G>A (p.Gly576Ser) in exon 12, c.1942G>A (p.Gly648Ser) at exon 14, c.2065G>A (p.Glu689Lys) at exon 15, c.2133A>G (p.Thr711=) at exon 15, c.2338G>A (p.Val780Ile) at exon 17, c.2446G >A (p.Val816Ile) at exon 17, and c.2553G>A (p.Gly851=) at exon 18. The results of the analysis of variance in this study obtained the variances reported in several populations in the world, such as the population of India and Thailand."