BackgroundEpididymal sperm maturation occurs via interactions between sperm and proteins secreted by the epididymal epithelium. Although this is an important process, the genes that encode the involved proteins remain largely uncharacterized. Previous studies have demonstrated that the genes involved in sperm maturation are regulated by androgen. Spag11a is an epididymal gene that is influenced by androgen. However, little is known about the putative role of this gene in the sperm maturation process. The objective of this study was to characterize Spag11a in the mouse epididymis.MethodsIn silico analyses were performed to predict signal peptides and functional domains. Spag11a expression was measured by quantitative real-time RT-PCR. Western blots and immunocytochemistry were performed to determine protein expression.ResultsSPAG11A is a member of the beta defensin protein family and constitutes a secretory protein. Spag11a was expressed exclusively in the epididymis. Moreover, it exhibited region-specific expression in the caput, which is typical for genes that are involved in creating a suitable microenvironment for sperm maturation. Mouse Spag11a was regulated by androgen. A significant decrease of Spag11a expression was observed at third day following a gonadectomy (P < 0.001). Interestingly, testosterone replacement therapy was able to maintain the expression almost at the normal level, indicating a dependency on androgen. Besides androgen, testicular factors influenced Spag11a expression in a different way. This was revealed by efferent duct ligation in which Spag11a was transiently up-regulated at the third day following the ligation before returning to the normal level at day 5. Spag11a regional expression was also observed at protein level detected by western immunoblotting which revealed a clear band in the caput but not in other regions. The prediction that SPAG11A is a secretory protein was confirmed by immunocytochemical analyses indicating cell-specific expression mainly in the caput principal cells and detection of the protein in epididymal luminal fluid and spermatozoa.ConclusionsBased on the characteristics of Spag11a, it is likely that this gene has a specific role in epididymal sperm maturation. Further studies using functional assays are necessary to confirm this finding.

Genetics and genomic medicine in Indonesia.

Context: Polycystic ovarian syndrome (PCOS) is a common endocrine system disorder among the women of reproductive age, yet the etiology of PCOS remains unclear. Infertility in females with PCOS can be caused by anovulation, high luteinizing hormone levels, and hyperandrogenism. Aims: This research analyzed the role of the aromatase gene (CYP19A1) in PCOS pathogenesis. Settings and Design: This study used an observational, cross-sectional design. Subjects and Methods: A total of 110 research participants (55 PCOS patients and 55 non-PCOS patients) were included in the study. Statistical Analysis Used: A real-time quantitative polymerase chain reaction was used to analyze the mRNA expression for aromatase in granulosa cells. Results: The relative expression of aromatase mRNA is lower in women with PCOS compared to those without PCOS ( P < 0.05). Relative expression of CYP19A1 (aromatase) mRNA in PCOS group was 0.38 ± 0.25, whereas in non-PCOS group was 1.00 ± 0.00. The decline in aromatase activity contributes to an increase in testosterone level. This condition has a role in hyperandrogenism which is a typical characteristic of PCOS women. Granulosa cells in polycystic ovary undergo disturbance in the development and cannot respond to follicle-stimulating hormone (FSH) stimulation. Lack of stimulation of FSH causes induction inadequacy to aromatase enzyme activity in the aromatization process. The decline in FSH activity is caused by various factors that are associated with typical characteristics of PCOS. Conclusions: There is a decrease in the relative expression rate of granulosa cells’ aromatase mRNA in women with PCOS compared to the non-PCOS.

RFLPs of TCR beta and gamma genes have been analyzed in chronic HBV carriers of three different ethnic populations to determine if there is an association of TCR allotypes with the development of chronic hepatitis B. The RFLPs of TCR beta and gamma genes were defined respectively by BglII and PvuII genomic fragments on Southern blots. These methods allow allotype assignment. The distribution of TCR beta alleles showed ethnic variation, with one allele significantly decreased in Australian Aborigines, but there was no association with chronic hepatitis B. The distribution of TCR gamma alleles did not show ethnic variation. However, a significant frequency decrease of one allele occurred in Aboriginal HBV carriers, suggesting the possibility of involvement of TCR gamma allotypes in the development of the chronic HBV carrier state in Australian Aborigines.

Table of contentsA1 Hope and despair in the current treatment of nasopharyngeal cancerIB TanI1 NPC international incidence and risk factorsEllen T ChangI2 Familial nasopharyngeal carcinoma and the use of biomarkersChien-Jen Chen, Wan-Lun Hsu, Yin-Chu ChienI3 Genetic susceptibility risk factors for sporadic and familial NPC: recent findingsAllan HildesheimI5 Genetic and environmental risk factors for nasopharyngeal cancer in Southeast AsiaJames D McKay, Valerie Gaborieau, Mohamed Arifin Bin Kaderi, Dewajani Purnomosari, Catherine Voegele, Florence LeCalvez-Kelm, Graham Byrnes, Paul Brennan, Beena DeviI6 Characterization of the NPC methylome identifies aberrant epigenetic disruption of key signaling pathways and EBV-induced gene methylationLi L, Zhang Y, Fan Y, Sun K, Du Z, Sun H, Chan AT, Tsao SW, Zeng YX, Tao QI7 Tumor exosomes and translational research in NPCPierre Busson, Claire Lhuillier, Olivier Morales, Dhafer Mrizak, Aurore Gelin, Nikiforos Kapetanakis, Nadira DelhemI8 Host manipulations of the Epstein-Barr virus EBNA1 proteinSheila Mansouri, Jennifer Cao, Anup Vaidya, and Lori FrappierI9 Somatic genetic changes in EBV-associated nasopharyngeal carcinomaLo Kwok WaiI10 Preliminary screening results for nasopharyngeal carcinoma with ELISA-based EBV antibodies in Southern ChinaSui-Hong Chen, Jin-lin Du, Ming-Fang Ji, Qi-Hong Huang, Qing Liu, Su-Mei CaoI11 EBV array platform to screen for EBV antibodies associated with NPC and other EBV-associated disordersDenise L. Doolan, Anna Coghill, Jason Mulvenna, Carla Proietti, Lea Lekieffre, Jeffrey Bethony, and Allan HildesheimI12 The nasopharyngeal carcinoma awareness program in IndonesiaRenske Fles, Sagung Rai Indrasari, Camelia Herdini, Santi Martini, Atoillah Isfandiari, Achmad Rhomdoni, Marlinda Adham, Ika Mayangsari, Erik van Werkhoven, Maarten Wildeman, Bambang Hariwiyanto, Bambang Hermani, Widodo Ario Kentjono, Sofia Mubarika Haryana, Marjanka Schmidt, IB TanI13 Current advances and future direction in nasopharyngeal cancer managementBrian O’SullivanI14 Management of juvenile nasopharyngeal cancerEnis OzyarI15 Global pattern of nasopharyngeal cancer: correlation of outcome with access to radiotherapyAnne WM LeeI16 The predictive/prognostic biomarker for nasopharyngeal carcinomaMu-Sheng ZengI17 Effect of HLA and KIR polymorphism on NPC riskXiaojiang Gao, Minzhong Tang, Pat Martin, Yi Zeng, Mary CarringtonI18 Exploring the Association between Potentially Neutralizing Antibodies against EBV Infection and Nasopharyngeal CarcinomaAnna E Coghill, Wei Bu, Hanh Nguyen, Wan-Lun Hsu, Kelly J Yu, Pei-Jen Lou, Cheng-Ping Wang, Chien-Jen Chen, Allan Hildesheim, Jeffrey I CohenI19 Advances in MR imaging in NPCAnn D KingO1 Epstein-Barr virus seromarkers and risk of nasopharyngeal carcinoma: the gene-environment interaction study on nasopharyngeal carcinoma in TaiwanYin-Chu Chien, Wan-Lun Hsu, Kelly J Yu, Tseng-Cheng Chen, Ching-Yuan Lin, Yung-An Tsou, Yi-Shing Leu, Li-Jen Laio, Yen-Liang Chang, Cheng-Ping Wang, Chun-Hun Hua, Ming-Shiang Wu, Chu-Hsing Kate Hsiao, Jehn-Chuan ...

No abstract

Abstrak Metode: Penelitian dilakukan dengan teknik PCR-RFLP menggunakan enzim restriksi Bgl II pada gen TCR-β. Analisis PCR-RFLP gen TCR-β digunakan untuk mendeterminasi alotip gen TCR-β pada penderita KNF dan kontrol dan pada kelompok etnis Cina dan pribumi dalam populasi Indonesia. Hasil: Hasil penelitian menunjukkan bahwa distribusi alotip gen TCR-β pada penderita KNF dan kontrol tidak berbeda bermakna (p > 0,05). Frekuensi alel A meningkat pada penderita KNF. Distribusi alotip gen TCR-β antara etnis Cina dan kelompok pribumi tidak memperlihatkan perbedaan bermakna (p> 0,05). Kesimpulan: Distribusi alel gen TCR-β antara kelompok KNF dengan kelompok kontrol tidak menunjukkan perbedaan. Distribusi alel gen TCR-β antara etnis Cina dan pribumi tidak menunjukkan perbedaan. Polimorfi sme gen TCR-β tidak berhubungan dengan KNF dan etnis pada populasi Indonesia. (Med J Indones 2011; 20:171-7) AbstractBackground: Nasopharyngeal carcinoma (NPC) is a multifactorial genetic disease, characteristically endemic and shows considerable differences in its geographical distribution. Besides infection with EBV, genetic factors such as polymorphisms of TCR-β gene contribute to the incidence of NPC. This study investigates the association of TCR-β gene polymorphisms with individual susceptibility to develop NPC in Indonesian ethnic groups.

Background: Most of male infertility are caused by defect in sperm motility (asthenozoospermia). The molecular mechanism of low sperm motility in asthenozoospermic patients has not been fully understood. Sperm motility is strongly related to the axoneme structure which is composed of microtubules and supported by outer dense fiber (ODF) and fibrous sheath (FS) protein. The objective of this study was to characterize the ODF (ODF1 and ODF2) expression in asthenozoospermic infertile male and control normozoospermic fertile male.Methods: Asthenozoospermic samples (n=18) were collected from infertile patients at Andrology Lab, Cipto Mangunkusumo Hospital Jakarta and control were taken from normozoospermic fertile donor (n=18). After motility analyses by computer-assisted sperm analysis (CASA), semen were divided into two parts, for Western blot and for immunocytochemistry analysis. Antibody against ODF1 and ODF2 protein were used in both analyses.Results: Analysis of ODF1 protein expression showed bands with molecular weight of ~30 kDa and ODF2 ~85 kDa. The mean band intensity of ODF1 and ODF2 protein were lower in the asthenozoospermic group (AG) compared to normozoospermic group (NG). Moreover, both ODF proteins were less intense and less localized in the AG than NG. Sperm motility was lower in AG, compared to control NG, i.e. average path velocity (VAP) = 32.07 ± 7.03 vs 37.58 ± 8.73 µm/s, p = 0.455; straight line velocity (VSL) = 24.17 ± 6.90 vs 27.61 ± 4.50 µm/s, p = 0.317 and curvilinear velocity (VCL) = 45.68 ± 7.91 vs 55.55 ± 16.40 µm/s, p = 0.099.Conclusion: There is down-regulation of ODF1 and ODF2 protein expression and less-compact localization in AG sperm compared to the NG. These changes might have caused disturbances in the sperm motility as observed in this study.