Analysis of aromatase (CYP19) gene in Iranian women with endometriosis

Endometriosis is a chronic, inflammatory, estrogen dependent disease that affects up to 10% of all women of fertile age. It is characterized by the presence and proliferation of functional endometrial glands and stroma outside the uterine cavity. The aim of this study was to assess whether intron 4 (TTTA)n repeat and TCT deletion/insertion polymorphisms of CYP19 gene are associated with endometriosis in northern Iran. This study involved 110 patients with endometriosis and 200 healthy controls, who were genotyped for (TTTA) repeats in the fourth intron of the CYP19 gene. Genomic DNA from patients and controls was genotyped by polymerase chain reaction (PCR). A total of eight alleles were observed in our study population, ranging from 7 repeats to 13 repeats. (TTTA) repeat lengths of 69 were classified as short (S), and those P10 were classified as long (L). Compared to women who possessed the S/S genotype, those who carried L/L (OR, 5.56; 95% CI, 3.33–9.29) had significantly increased risk of endometriosis. There was a significant trend between L/L genotype and higher stage of endometriosis (P <0.001). In conclusion, a significant association was identified between endometriosis and the CYP19 gene polymorphism, with endometriosis having longer CYP19 repeat lengths than control subjects. The strong association of CYP19 gene polymorphism with high-stage endometriosis suggests that CYP19 may have a prognostic implication.Keywords: CYP19; Aromatase; Endometriosis; Gene polymorphismThe Egyptian Journal of Medical Human Genetics (2013) 14, 165–16

The effects of amygdalin on the morphologic structure of mouse cerebellar cortex

زمینه و هدف: گزارشات ضد و نقیضی از مسمومیت و حتی مرگ به دنبال مصرف بیش از حد آمیگدالین به عنوان یک داروی ضد سرطان وجود دارد. در مطالعه حاضر اثرات آمیگدالین بر ساختار مورفولوژیک قشر مخچه موش سوری بررسی شد. روش بررسی: در این مطالعه تجربی، 32 سر موش سفید کوچک آزمایشگاهی به صورت تصادفی به 4 گروه تقسیم شدند. در گروه شاهد، به موش ها سالین نرمال تزریق گردید در حالی که به 3 گروه دیگر، آمیگدالین با دوز 10، 25 و 50 میلی گرم به ازای هر کیلوگرم وزن بدن به مدت 30 روز به صورت درون صفاقی تزریق گردید. سه روز بعد از آخرین تزریق آمیگدالین، حیوانات بیهوش شدند و پس از تهیه لام های میکروسکوپی، تعداد و ارتفاع سلول های پورکنژ و ضخامت لایه های قشر مخچه در گروه ها تعیین شد. داده ها توسط نرم افزار آماری SPSS و با استفاده از آزمون های آماری آنالیز واریانس، کروسکال والیس و تست تعقیبی دان تجزیه و تحلیل شدند. یافته ها: اندازه سلول های پورکنژ، ضخامت لایه های گرانولر و مولکولار مخچه در هیچ یک از گروه ها اختلاف معنی‌داری را نشان نداد (05/0P>)، ولی تعداد سلول‌های پورکنژ فقط در گروه آمیگدالین 10 (34/0 ± 9) نسبت به گروه شاهد (34/0 ± 11) و گروه آمیگدالین 25 (44/0 ± 11) نسبت به گروه آمیگدالین 10 (34/0 ± 9) تفاوت معنی داری را نشان دادند (05/0>P). نتیجه گیری: نتایج این مطالعه نشان داد که تزریق آمیگدالین با غلظت mg/ml10 می تواند با کاهش تعداد سلول های پورکنژ باعث اثرات منفی در ساختار قشر مخچه موش سوری شود

Analysis of polymorphic marker rs9384 located in the GCDH gene region associated with glutaricaciduria type 1.

زمینه و هدف: گلوتاریک اسید یوریای نوع 1 نوعی اختلال متابولیکی عصبی می باشد که در اثر جهش در ژن رمز کننده آنزیم گلوتاریل کوآدهیدروژناز (GCDH) ایجاد می شود. اصولاً تعیین توالی به منظور شناسایی جهش ‌های نقطه ای و دیگر تنوعات توالی موجود در این ژن استفاده می‌شود که بسیار وقت ‌گیر و پر هزینه می ‌باشد. روش دیگر بررسی پیوستگی با استفاده از مارکرهای چند شکلی مانند چند شکلی های تک نوکلئوتیدی (SNP) است که برای تعیین افراد ناقل و همچنین تشخیص پیش از تولد در خانواده‌های دارای فرد مبتلا به کار می ‌رود. در پایگاه‌ های داده تعداد زیادی از مارکرهای SNP برای ناحیه ژنی GCDH معرفی شده است. در مطالعه حاضر خصوصیات و همچنین اطلاع دهندگی مارکر rs9384 واقع در ناحیه ژنی GCDH مورد بررسی قرار گرفت. روش بررسی: مارکر rs9384 در 100 فرد سالم غیر خویشاوند با روش ARMS PCR با بهره گیری از پرایمرهای جدید طراحی شده تعیین ژنوتیپ شد. در این مطالعه تخمین فراوانی آللی و درجه هتروزیگوسیتی با استفاده از پایگاه GenePop انجام شد؛ همچنین از نرم ‌افزار Power Marker برای تخمین وجود تعادل هاردی واینبرگ و میزان محتوی اطلاع دهندگی چند شکلی (PIC) استفاده شد. یافته ها: نتایج حاصل از این مطالعه بیانگر فراوانی آللی مینور (MAF) 0/34، درجه هتروزیگوسیتی 0/53 و مقدار 0/35=PIC برای مارکر rs9384 در جمعیت مورد مطالعه بود. به علاوه بررسی تعادل هاردی واینبرگ نشان داد که جمعیت برای این مارکر در تعادل می‌ باشد. نتیجه گیری: در مجموع با توجه به نتایج به دست آمده از مطالعه حاضر می‌ توان مارکر rs9384 را به عنوان یک مارکر تک نوکلئوتیدی مناسب جهت تشخیص مولکولی گلوتاریک اسید یوریای نوع 1 در جمعیت اصفهان به عنوان نمونه‌ ای از جمعیت ایرانی معرفی کرد

Ispitivanje značajka domova djece s alergijskim rinitisom i astmom

The prevalence of allergic diseases, especially asthma and allergic rhinitis, has dramatically increased during the last decades. Mite and cockroach, which are the most common allergens in house dust, are the major indoor allergens in asthmatic and allergic rhinitis patients. The aim of this study was to compare the association between age of dwelling and some other home characteristics in asthmatic and allergic rhinitis children, who had positive skin prick test to mite and cockroaches, with allergic patient with negative skin test. Thirty-six asthmatic and allergic rhinitis children with positive skin prick test to mite and cockroach allergens, and 34 allergic rhinitis and asthmatic children with negative skin prick test to these allergens were enrolled in this study. Data on home characteristics, including age of homes, kind of carpeting, floor of home and number of rooms in the building, were collected by telephone questionnaire. The mean age of buildings was higher in the group of children sensitive to mite and cockroach (22.4±12.9 vs. 16.3±13.9 years), but the difference was not significant. However, when patients sensitive to mite only were compared to control patients, the difference was significant (p=0.025). There was no significant difference in the number of floor, rooms, kind of carpet and other features of building between the case and control group. There was a significant relationship between mite allergy and building age, which could be important for the policy of allergy control in the society. However, further studies are needed to clarify the association between more specific home characteristics and allergy diseases.Učestalost alergijskih bolesti, poglavito astme i alergijskog rinitisa, bilježi znatan porast posljednjih desetljeća. Grinje i žohari kao najčešći alergeni u kućnoj prašini glavni su alergeni na koje nailaze osobe s alergijom i alergijskim rinitisom u zatvorenom prostoru. Cilj ovoga istraživanja bio je usporediti povezanost starosti objekta i neke druge značajke domova kod djece s astmom i alergijskim rinitisom te s pozitivnim kožnim testom na grinje i žohare s vrijednostima istih kod djece s astmom i alergijskim rinitisom, ali s negativnim kožnim testom na grinje i žohare. U studiju je bilo uključeno 36 djece s astmom i alergijskim rinitisom te s pozitivnim kožnim testom na grinje i žohare i 34 djece s astmom i alergijskim rinitisom, ali s negativnim kožnim testom na grinje i žohare. Podatci o značajkama doma uključujući starost zgrade, vrst zidne obloge, kat i broj soba u zgradi prikupljeni su telefonskim anketiranjem roditelja. Srednja starost zgrade u kojoj žive bila je veća kod djece osjetljive na grinje i žohare nego u djece koja nisu pokazala osjetljivost na ove alergene (22,4±12,9 prema 16,3±13,9 years), ali razlika nije bila značajna. Međutim, kad su s kontrolnom skupinom uspoređena djeca osjetljiva samo na grinje, tada je razlika bila značajna (p=0,025). Nije bilo nikakve razlike između dviju skupina u odnosu na kat, broj soba, vrst zidne obloge i druge značajke zgrade. Dakle, utvrđena je značajna povezanost alergije na grinje i starosti zgrada, što bi moglo biti važno u planiranju aktivnosti za suzbijanje alergije u društvu. Potrebna su daljnja ispitivanja kako bi se pojasnila udruženost nekih specifičnih značajka zgrada i alergijskih bolesti

Učinci suplementacije kreatin monohidratom na oksidativno oštećenje dnk i peroksidaciju lipida izazvanu akutnim progresivnim testom opterećenja do otkaza u hrvača

The purpose of the study was to examine the effects of a seven-day creatine monohydrate (CrM) supplementation on oxidative DNA damage and lipid peroxidation after incremental exercise to exhaustion in wrestlers. Thirty-one college-aged male wrestlers (age 19.52±2.75 years, body mass 79.24±16.13kg, height 173±6.49cm, and body fat 16.37±5.92%) volunteered to participate in this double-blind, placebo controlled study and were randomly placed into either the placebo (PL; 4×5 g•day-1 of maltodextrine powder; n=16) or the creatine monohydrate (CrM: 4×5 g•day-1 CrM, n=15) group. Prior and following the supplementation period, participants performed an incremental cycling ergometer test to exhaustion. Urine samples were collected before and after the supplementation period at before (Pre), after (Post) and 24 hours after (24h Post) the exercise tests to determine the oxidative DNA damage and lipid peroxidation as measured by urinary excretion of 8-hydroxy-2-deoxyguanosine (8-OHdG) and 8-Isoprostane (8-iso PGF2α). Our finding demonstrates that the urinary 8-OHdG level significantly increased at 24h Post to exhaustion by 13.36% in CrM and 24.08% in PL before supplementation (p.05). In addition, urinary 8-OHdG concentrations at 24h Post significantly decreased by 32.65% in CrM group after supplementation compared with before supplementation. After supplementation, urinary 8-OHdG concentrations were significantly lower in CrM group compared with PL at 24h Post (p0,05). Koncentracije 8-OHdG iz urina uzetog 24 sata nakon testa značajno su niže (za 32,65%) u CrM grupi nakon suplementacije u odnosu na mjerenje prije suplementacije. Nakon suplementacije, koncentracije 8-OHdG u urinu su bile statistički značajno niže u CrM grupi u usporedbi s placebo grupom 24 sata nakon testa (p<0,05). Rezultati sugeriraju da suplementacija kreatin monohidratom može smanjiti akutno oksidativno oštećenje DNK izazvano vježbanjem do otkaza u hrvača

Association of 757 C/T polymorphismin PRODH gene with Schizophrenia in Iranian population

Evidence is emerging for the association of polymorphisms in PRODH gene and increased risk of schizophrenia. In this project, peripheral blood sampling was obtained from 175 schizophrenia patients that their diseases were confirmed by psychiatrists. 185 healthy individuals were considered as control group. The related tests were administered on the basis of PCR-RFLP. In the continuation, statistical analysis was made on the basis of obtained genotypes from two groups of healthy and patient groups using SPSS16.0 software. The administration of this project aims at investigating the hypothesis that proline dehydrogenase gene, as one of the most important genes involved in schizophrenia incidence which is proved in various populations [outside Iran], may also be involved in incidence of schizophrenia in Iran. This study has analyzed one single nucleotide polymorphism in the PRODH gene, including 757C/T in the incidence of this disease in the given statistical population. According to our results, SNP 757 C/T may be effective in incidence of the disease since P value was &lt; 0.01. Ultimately, our results suggest that outbreak of mutation in PRODH gene in our population can be one of causes of increasing risk of Schizophrenia in this population

The Association of VEGF +405 C/G Polymorphism with In vitro Fertilization and Embryo Transfer Outcome (IVF-ET) in Iranian Population

Abstract Background: Implantation of an embryo involves a complex sequence of signaling events, consisting of a large number of molecular mediators such as ovarian hormones, cytokines, adhesion molecules and growth factors. Vascular endothelial growth factor (VEGF) is an important angiogenic factor. VEGF is believed to play an important role in the process of implantation. The aim of this study was to evaluate the association of VEGF +405C/G polymorphism and the clinical outcomes of women who underwent IVF-ET procedures. Materials and Methods: One hundred women with previous IVF-ET failures and 100 pregnant women as controls were genotyped for VEGF +405 C/G by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Statistical analysis was performed using the MedCalc software. Results: Our results indicated a higher prevalence of the VEGF +405 GG genotype and G allele in patients with history of IVF-ET failure (OR=6.90; 95%CI=2.75-17.29; p<0.0001, OR=2.5; 95%CI=1.66-3.76, p<0.0001). Conclusion: The present study revealed that the VEGF +405 GG genotype was associated with an increased risk of IVF-ET failure. However, further studies in larger populations including other genetic factors are required to achieve a definitive conclusion

Administration of vitamin D 3 induces CNPase and myelin oligodendrocyte glycoprotein expression in the cerebral cortex of the murine model of cuprizone-induced demyelination

In the central nervous system (CNS) the main proteins of myelin are proteolipid protein (PLP), myelin basic protein (MBP), myelin oligodendrocyte glycoprotein (MOG) and CNPase. Myelin oligodendrocyte glycoprotein is a minor component of the myelin sheath, but is an important autoantigen linked to the pathogenesis of multiple sclerosis (MS). CNPase is expressed exclusively by oligodendrocytes in the CNS, and the appearance of CNPase seems to be one of the earliest events of oligodendrocyte differentiation and myelination. In this study the effects of vitamin D on total protein concentration, CNPase and MOG expression in the cerebral cortex of the murine model of cuprizone-induced demyelination was investigated. The mice were treated by cuprizone for five weeks in order to induce demyelination. The mice were then divided into 3 groups. The first group was injected intraperitoneally (IP) with vitamin D diluted in olive oil in the amount of 5 µg/kg/daily body weight. The second group (SHAM) was injected IP with olive oil and the third group was left without any injection as the control group (n = 11 for each group). After five weeks the mice were killed and the cerebral cortex was collected and the expression of CNPase and MOG was studied by Western blot. Total protein concentration in the vitamin D injected, SHAM and control groups were 0.918 ± 0.003, 0917 ± 0.004 and 0.916 ± 0.004 g/l, respectively (p > 0.05). However, a significant increase in the MOG and CNPase expression was seen in vitamin D injected group as compared to SHAM and control groups. It is concluded that vitamin D plays a role in the process of remyelination by increasing MOG and CNPase expression in the cortex