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"This book describes the complex interplay of epigenetic regulatory mechanisms, and shows how these carefully orchestrated processes can go wrong, resulting in epigenetic reprogramming of the cells that may manifest in pathological changes. "

"Summary:Experts from academia and both the biotechnology and pharmaceutical industries introduce biological, medical and methodological aspects of the emerging field of epigenomics."

"Latar Belakang: Epigenetik lingkungan merupakan faktor yang masih dapat dikontrol dalam kejadian celah bibir dan lelangit. Masyarakat diharapkan dapat mengetahui apa saja epigenetik lingkungan yang berpengaruh terhadap kejadian celah bibir dan lelangit sehingga masyarakat sadar akan pentingnya tata laksana yang baik pada penderita celah bibir dan lelangit. Tujuan: Mengetahui gambaran epigenetik lingkungan pada penderita celah bibir dan lelangit. Metode: Penelitian deskriptif dengan desain potong lintang dengan sampel 184 rekam medis pasien celah bibir dan lelangit di RSAB Harapan Kita. Data menunjukkan gambaran epigenetik lingkungan pada anak dengan celah bibir dan lelangit yang sudah selesai menjalani perawatan bedah primer di RSAB Harapan Kita. Hasil: Nilai rerata usia ibu saat hamil adalah 30,5 tahun. Terdapat riwayat konsumsi obat pada 77,7 persen subjek. Tidak diketahui adanya kebiasaan merokok pada ibu. Tingkat pendidikan ibu sedang (SMP, SMA, Diploma 1–3) dan tingkat pendidikan ayah tinggi (Sarjana 1–2) memiliki persentase terbesar. Mayoritas ibu pasien berdomisili di Jabodetabek. Nilai rerata berat badan lahir, lingkar kepala lahir, dan panjang badan lahir sebagai parameter dari nutrisi ibu termasuk dalam kategori normal. Sebanyak 79,9% subjek menjalani recall pasca perawatan primer. Kesimpulan: Epigenetik lingkungan menunjukkan gambaran yang normal pada pasien celah bibir dan lelangit di RSAB Harapan Kita.

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Background: Environmental epigenetics are controllable elements in the occurrence of cleft lip and palate. The community is expected to understand the environmental epigenetics that influence the incidence of cleft lip and palate, raising awareness of the importance of proper management in cleft lip and palate. Objective: This study aims to understand the overview of environmental in epigenetics individuals with cleft lip and palate. Methods: Descriptive research with a cross-sectional design involving a sample of 184 medical records of cleft lip and palate patients at RSAB Harapan Kita. The data illustrates the overview of environmental epigenetics in children with cleft lip and palate who have completed primary surgical treatment at RSAB Harapan Kita. Results: The average maternal age during pregnancy is 30,5 years. About 77,7% of subjects have a history of drug consumption, and smoking habits are unknown. Mothers typically have a moderate education level, while fathers have a higher education level. Most mothers reside in Jabodetabek. Birth weight, head circumference, and birth length fall within normal ranges. A recall after primary care was conducted for 79,9% of the subjects. Conclusion: The environmental epigenetics indicate a normal overview in patients with cleft lip and palate at RSAB Harapan Kita."

"ABSTRAKLatar belakang: SOPK adalah gangguan endokrin yang hingga saat ini etiologinya masih belum jelas. Faktor epigenetik metilasi DNA, akhir-akhir ini mendapatkan perhatian dalam patogenesis SOPK. Gen HSD17B1 disebut sebagai "estrogenik" 17β-HSD karena mengkatalisasi langkah terakhir dalam biosintesis estrogen dengan secara istimewa mengurangi estrone, estrogen yang lemah untuk menghasilkan estrogen 17β-estradiol yang kuat. Kami berspekulasi cacat pada metilasi DNA mendorong deregulasi gen sehingga terjadi penurunan ekspresi mRNA HSD17B1, akhirnya menghasilkan estradiol yang tidak cukup pada pasien SOPK.Metode: Kami mengumpulkan total 60 pasien wanita. MSP untuk analisis metilasi DNA, qPCR untuk analisis ekspresi mRNA.Tujuan: Untuk menganlisis metilasi DNA pada kelompok pasien SOPKdan kelompok wanita sehat, ekspresi mRNA pada kelompok pasien SOPK dan kelompok wanita sehat, tingkat estradiol pada pasien SOPK dan kelompok wanita sehat, korelasi antara metilasi DNA dan ekspresi mRNA pada pasien SOPK, korelasi ekspresi mRNA pada pasien SOPKdan kadar serum estradiol.Hasil: Metilasi gen HSD17B1 pada wanita SOPK adalah 42,64% dan kelompok yang sehat menunjukkan 53,80%, p = 0,160 tidak signifikansi antara kedua kelompok. Nilai ekspresi relatif gen HSD17B1 adalah 0,70 kali lebih rendah dibandingkan dengan kelompok wanita sehat, p = 0,003 signifikansi antara kedua kelompok. Estradiol rata-rata pada kelompok SOPK25,78 pg / ml dan kelompok wanita sehat adalah 36,74 pg / ml. Korelasi tingkat metilasi DNA versus ekspresi mRNA pada pasien SOPK, tidak signifikan p = 0,076. Korelasi antara ekspresi mRNA gen HSD17B1 dan kadar serum estradiol, signifikansi p = 0,020. ;Semakin terjadi penurunan ekspresi mRNA, semakin rendah kadar serum estradiol.

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ABSTRACTBackground: PCOS is the most common endocrine disorder but its etiology remains unclear. Lately, epigenetic factors have gained considerable attention in the pathogenesis of PCOS, DNA methylation.  HSD17B1 is referred to as the "estrogenic" 17β-HSD because it catalyzes the final step in estrogen biosynthesis by preferentially reducing the weak estrogen estrone to yield the potent estrogen 17β-estradiol. We speculated defects in DNA methylation promote the deregulation of genes make decrease mRNA expression HSD17B1, finally produces not enough estradiol in PCOS patients.Methods: We collected a total of 60 female patients. MSP for DNA methylation analysis, qPCR for mRNA expression analysis.Aims: To investigate, DNA methylation in PCOS patients group and healthy women group, mRNA expression in PCOS patients group and healthy women group, estradiol level in PCOS patients and healthy women group, the correlation between DNA methylation and mRNA expression in PCOS patients, correlation mRNA expression in PCOS patients and estradiol serum level.Results: Methylated of HSD17B1 gene in PCOS women was 42.64 % and a healthy group showed 53.80 %, p=0.160 not significances between the two groups.  The relative expression value of the HSD17B1 gene was 0.70 fold lower compare with a healthy women group, p=0.003 significance between the two groups. The average estradiol in the PCOS group 25.78 pg/ml and the healthy women group is 36.74 pg/ml. Correlation of DNA methylation level versus mRNA expression in PCOS patients, not significance p=0.076. Correlation between mRNA expression of the HSD17B1 gene and estradiol serum level, significance p=0.020. (More decrease mRNA expression, more lower estradiol serum level)."

"The studies described in this volume serve as a starting point to familiarize one self with the multifarious differences in epigenetic designs that orchestrate the progression of developing blood cells. They also may serve as a general paradigm for the mechanisms that underpin the control of eukaryotic gene expression. "

"Latar Belakang: Infertilitas dialami oleh sekitar 15% pasangan di seluruh dunia, dengan kontribusi dari pihak laki-laki sekitar 50%. Salah satu penyebab infertilitas pada pria adalah azoospermia non obstruktif idiopatik, yang diduga melibatkan faktor epigenetik. Penelitian ini bertujuan menilai peran epigenetik, khususnya remodeling kromatin dan modifikasi histon, pada proses spermatogenesis pada testis dengan azoospermia non obstruktif.Metode: Sampel BFPE dan TESE diperiksa menggunakan teknik HE lalu dikelompokkan berdasarkan tipe henti maturasi, yaitu SCO, STA, dan SDA. Sampel BFPE dilakukan pemeriksaan immunohistokimia menggunakan antibodi anti-CHD5, anti-H3K9me3, dan anti-H4K12ac. Proses pengolahan gambar immunohistokimia menggunakan ImageJ, IHC Profiler, dan StarDist. Sampel TESE dilakukan pemeriksaan qPCR untuk mengukur tingkat ekspresi gen CHD5 dan PHF7. Selain itu, pada sampel TESE dilakukan pemeriksaan ChIP untuk menilai kadar relatif gen WEE1 dan PRM1 yang berikatan dengan CHD5.Hasil: Ekspresi CHD5 ditemukan pada spermatogonia dan spermatid bulat. Tidak ada perbedaan signifikan intensitas CHD5 pada spermatogonia antara kelompok STA dan SDA. Intensitas H3K9me3 dan H4K12ac pada spermatogonia, spermatosit, dan sel sertoli berdasarkan kelompok henti maturasi berbeda signifikan. Tingkat ekspresi gen CHD5 pada kelompok STA meningkat signifikan 67 kali lipat dibandingkan ekspresinya pada SCO, dan pada kelompok SDA meningkat signifikan 164 kali lipat dibandingkan ekspresi pada SCO. Tingkat ekspresi gen PHF7 pada kelompok STA meningkat signifikan 53 kali lipat dibandingkan ekspresinya pada SCO, dan pada kelompok SDA meningkat signifikan 192 kali lipat dibandingkan ekspresi pada SCO. Kadar DNA segmen promoter gen WEE1 pada ChiP-qPCR menggunakan antibodi anti-CHD5 ditemukan sebesar 1,19% untuk STA dan 1,87% untuk SDA, lebih tinggi dibandingkan kadar pada SCO yaitu 0,36%. Sedangkan kadar DNA segmen promoter gen PRM1 ditemukan sebesar 1,01% untuk STA dan 2,47% untuk SDA, lebih tinggi dibandingkan kadar pada SCO yaitu 0,29%.Kesimpulan: CHD5 berperan pada spermatogenesis manusia, khususnya pada sel spermatogonia dan spermatid bulat. CHD5 terbukti meregulasi gen WEE1 dan PRM1 pada sel spermatogenik. H3K9me3 dan H4K12ac berperan pada kasus henti maturasi, dan berpotensi untuk menjadi marker kasus azoospermia non obstruktif.

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Background: Infertility affect about 15% of couples worldwide, with male factors contributing to around 50% of cases. One of the causes of male infertility is idiopathic non-obstructive azoospermia, which is suspected to involve epigenetic factors. This study aims to assess the role of epigenetics, specifically chromatin remodeling and histone modification, in the process of spermatogenesis in testes with non-obstructive azoospermia.

Method: The BFPE and TESE samples were examined using HE techniques and subsequently classified based on maturation arrest types, including SCO, STA, and SDA. Immunohistochemical analysis of the BFPE samples was conducted using anti-CHD5, anti-H3K9me3, and anti-H4K12ac antibodies. Image processing for immunohistochemistry was performed using ImageJ, IHC Profiler, and StarDist. The TESE samples underwent qPCR analysis to measure the expression levels of the CHD5 and PHF7 genes. Additionally, ChIP analysis was performed on the TESE samples to assess the relative levels of WEE1 and PRM1 genes bound to CHD5.

Result: The expression of CHD5 was found in spermatogonia and round spermatids. There was no significant difference in CHD5 intensity in spermatogonia between the STA and SDA groups. However, the intensities of H3K9me3 and H4K12ac in spermatogonia, spermatocytes, and Sertoli cells varied significantly among the maturation arrest groups. The expression level of the CHD5 gene in the STA group increased significantly by 67-fold compared to its expression in SCO, and in the SDA group, it increased significantly by 164-fold compared to its expression in SCO. The expression level of the PHF7 gene in the STA group increased significantly by 53-fold compared to its expression in SCO, and in the SDA group, it increased significantly by 192-fold compared to its expression in SCO. The DNA segment promoter level of the WEE1 gene in ChiP-qPCR using anti-CHD5 antibody was found to be 1.19% for STA and 1.87% for SDA, higher than the level in SCO, which was 0.36%. Meanwhile, the DNA segment promoter level of the PRM1 gene was found to be 1.01% for STA and 2.47% for SDA, higher than the level in SCO, which was 0.29%.

Conclusion: CHD5 plays a role in human spermatogenesis, particularly in spermatogonia and round spermatids. It has been shown to regulate the genes WEE1 and PRM1 in spermatogenic cells. H3K9me3 and H4K12ac are implicated in cases of maturation arrest and have potential as markers for azoospermia non obstructive cases."

"The focus of this volume is on critical epigenetic regulation and chromatin remodeling events that occur in the nervous system and on the presumed mechanisms that operate within neurons to translate them into long-lasting neuronal responses.Recent years have seen spectacular advances in the filed of epigenetics. These have attracted the interest of researchers in many fields and evidence connecting epigentic regulation to brain functions has been accumulationg. Neurons daily convert a variety of external stimuli into rapid or long-lasting changes in gene expression. A variety of studies have centered on the molcular mechanisms implicated in epigentic control and how these may operte in concert. It will be critical to unravel how specifity is achieved. The focus of this volume is on critical epigenetic regulation and chromatin remodeling events that occur in the nervous system and on the presumed mechanisms that operate within neurons to translate them into long-lasting neuronal responses."

"Epigenetics in psychiatry covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this potentially very important and useful area of psychiatry.The elucidation of basic principles of epigenetic biology points to the creation of more optimal and effective therapies for major classes of psychiatric disease. In this regard, epigenetic therapy, the use of drugs to correct epigenetic defects, may help in the pharmacotherapy of patients with these disorders. With time, such advances may eventually point to replacements for psychotropic drugs presently of symptomatic value and low efficacy. Moreover, there is evidence to suggest that other forms of treatment commonly used in the management of psychiatric disorders, like psychotherapy and electroconvulsive therapy, may also act by epigenetic mechanisms."