Inactivating KISS1 mutation and hypogonadotropic hypogonadism

Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TÜBİTAK] and others.)http://www.nejm.org/nf201

The roles of sex steroids and their receptors in the regulation of brain aromatase expression.

The roles of sex steroids and their receptors in the regulation of brain aromatase expression

Investigation of antibacterial effects of chlorzoxazone

WOS: 000480626400046Purpose: Some of non-antibiotic drugs may provide inhibition against bacterial growth in their routine use. Chlorzoxazone is a muscle relaxant used to treat muscle spasm and the resulting pain or discomfort. This study was aimed to the investigation of antibacterial effects of Chlorzoxazone using MIC (Minimum inhibitory concentration), MBC (minimum bactericidal concentration) and disk diffusion method. Materials and Methods: The MIC and MBC was determined by dilution assay using different concentrations of Chlorzoxazone against 2 bacterial strain (Pseudomonas aeruginosa as a gram negative bacterial strain and Bacillus subtilis as a gram positive bacterial strain). Disk diffusion assay were prepared at different doses (25, 50 and 100 mu g). Results: MIC values of Chlorzoxazone against Pseudomonas aeruginosa was 0.800 mg ml-1, and MBC values was 2.56 mg ml-1 and MIC values of Chlorzoxazone against Bacillus subtilis was 0.400 mg ml-1, and MBC values was 1.92 mg ml-1. The results obtained from disk diffusion assay supported that the Chlorzoxazone has not antibacterial effect on Pseudomonas aeruginosa and Bacillus subtilis. Conclusion: Although antibacterial activity of Chlorzoxazone was not found but another studies are needed to determine the probable risk of Chlorzoxazone

The Effect oF MK-801 and Dexmedetomidine on Spatial Learning and Memory

WOS: 000383578300192

Is there any role of G-protein estrogen receptor gene (GPR30) polymorphism in development of schizophrenia?

WOS: 000455891800002Objectives: Schizophrenia is a complex neuropsychiatric disorder that affects approximately 1% of the population. Estrogens may play an important role in the etiology and treatment of this disorder. They mediate effect by either estrogen receptors. GPR30 is an alternative G protein-coupled receptor distinct from the classical estrogen receptors (ER alpha and ER beta). We aimed to investigate the association between GPR30 gene SNP rs3808350 and gonadal hormone (estrogen and testosterone) levels, and their association with development of schizophrenia, in a Turkish population. Methods: A total 117 schizophrenia patients and 123 control individuals were genotyped with method Real-Time PCR. Results: In the comparison of the patients and the control group with regard to the SNP genotype and allele frequencies did not show significant differences. However, there was a significant decrease in the presence of AA+AG genotypes in the patient group. There were significant differences in terms of estrogen, testosterone. In the patient group, estrogen and testosterone levels were lower than the control group. Conclusions: This is the first study examining allele and genotype frequencies of GPR30 gene SNP rs3808350 in schizophrenia patients. Because of effects of gene polymorphisms may differ in the population from the population, we may suggest that role of GPR30 gene SNP rs3808350 in development of schizophrenia must be investigated in different and wider populations

Association of Estrogen Receptor Alpha Gene XbaI and PvuII Polymorphisms with Postmenopausal Osteoporosis

Purpose: Osteoporosis is a multifactorial disease characterized by a decrease bone mineral density (BMD) and micro-architectural deterioration of bone structure. Although several environmental factors are known to have influences on BMD, genetic contribution to the pathogenesis of osteoporosis has recently been recognized. The existence of about 150 candidate genes which have effects on bone mass was reported but the degree of these effects and interaction of genes and environment are presently unclear. In this study, it was aimed to investigate any relationship between BMD values of lomber vertebra and femoral neck, osteoporosis-related criteria and ERα gene XbaI, PvuII polymorphisms. Material and Methods: We evaluated the relationship between the osteoporotic factors and ERα gene XbaI, PvuII polymorphisms in 107 postmenopausal women (73 osteoporotic as study group and 34 non-osteoporotic as a control group) by using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technics. Data about the osteoporosis-related factors about all subjects were either based on the laboratory analyses and results of a standardized questionnaire. Results: The distributions of genotype, allele and haplotype frequencies of both XbaI and PvuII polymorphisms were not significantly different between osteoporotic and control group. In control group of XbaI polymorphism, minor allel was “X” (nucleotide G) with the frequency MAF=0,457 but in osteoporotic women it was “x” (nucleotide A) with MAF=0,467 and in control group of PvuII polymorphism, minor allele was “P” (nucleotide C) (MAF=0,485) and in osteoporotic women it was “p” (nucleotide T) (MAF=0,418). In patients xx genotypes of XbaI polymorphism had significantly higher femoral neck-lomber average BMD value than XX and Xx genotypes (p=0,05) while no significant difference was found among control genotypes. PvuII genotypes showed no differences for femoral neck-lomber BMD values both in patients and controls. For the family history of osteoporosis, PP, Pp and pp genotypes did not significantly differ in controls but differences among patient genotypes were significant reaching the highest ratio (% 85.7) in PP genotypes (p=0,04). Xxpp genotyped patients who exposed to sun over 15 minutes per day had higher BMD values than in patients who had no sun exposure (p=0.01) but there was no difference in control group. None of the other criteria related to osteoporosis was found to be associated with XbaI, PvuII polymorphisms. Conclusion: Osteoporotic women have higher femoral neck-lomber BMD values for xx genotypes but all osteoporotic women have lower x and p allele frequencies. Although there was an insignificant difference for XbaI genotypes between patients and controls, less occurrence of \"x\" allel associated with higher BMD values in patients may be of some clinical diagnostic importance

Inactivating <em>KISS1</em> mutation and hypogonadotropic hypogonadism

Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans

Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TÜBİTAK] and others.)http://www.nejm.org/nf201