Cytogenetic behavior of cryoprotectant DMSO

IVF (in vitro fertilization) is now used worldwide to overcome female or male infertility. Cryopreservation of human embryos provides the clearest opportunity to improve the clinical results obtained with IVF. Cryoprotective agents (CPA) are used to minimize freezing injuries. DMSO has been the most widely used CPA, however, high concentrations of CPAs in the vitrification solution have been shown to be detrimental to the cell. In order to determine the effect of DMSO solutions (5%, 10% and 20%) on genetic stability and/or subsequent DNA repair, we have investigated its ability to induce Sister Chromatid Exchanges (SCEs) and Proliferation Rate Index (PRI) in normal human lymphocyte cultures of peripheral blood, due to the fact that the study cannot be conducted on embryos and to the limited number of spare available embryos, the corresponding accessible experimental material was T lymphocyte. The blood samples were taken from three different healthy donors (conducting experimental procedure in triplicate). After the effect of DMSO solutions on blood according to the instructions of kit K-SIBV-500, lymphocytes are harvested and cultured with suitable technique to assess SCEs and PRI. The results show that all three DMSO concentrations cause a statistically dose depended significant increase of SCE frequency of the lymphocytes (p<0.001) and raise the need for more research regarding the safe and effective use of cryoprotectant

AUTOSOMAL FOLATE SENSITIVE FRAGILE SITES IN NORMAL AND MENTALLY-RETARDED INDIVIDUALS IN GREECE

The frequencies of autosomal folate sensitive fragile sites were compared in populations of mentally retarded fra(X) negative (N = 220) and normal children (N = 76) in Greece. In addition, the frequency of autosomal fragile sites was studied in 20 known fra(X) children in order to test if the fra(X) syndrome is associated with general chromosome instability. The frequencies of both common and rare autosomal fragile sites did not differ significantly between the mentally retarded and the normal children, although the rate of expression was considerably higher in the retarded group. Autosomal fragile sites were not increased in the fra(X) patients. Fra(3)(p14) was by far the most frequent one in all groups. The frequency of fra(6)(q26) was found to be considerably higher among the mentally retarded children, this difference being almost statistically significant. Further cytogenetic studies of normal and retarded individuals are required in order to elucidate this point further

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the hellenic population

Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. Here we report a pilot screening survey by means of cytogenetic and molecular methods of 433 unrelated retarded individuals and their parents of Hellenic origin coming from various parts of Greece and Cyprus. The purpose of the study was to estimate the frequency of FRAXA mutation in individuals with nonspecific mental retardation without family history and phenotypic stigmata in the Hellenic population. Five FRAXA-positive children (1.15%) were identified, of whom four were found to carry a full mutation and one a premutation. Furthermore we present preliminary data on a screening of FRAXE mutation frequency. We screened 257 male patients with nonspecific mental retardation, finding none positive for FRAXE mutation

Early maternal deprivation-induced modifications in the neurobiological, neurochemical and behavioral profile of adult rats

Early maternal deprivation (MD) is an animal model of neurodevelopmental stress associated with a variety of abnormalities during adulthood. The present study investigated specific behavioral, neurochemical and neurobiological parameters related to dopaminergic and serotonergic function in adult rats subjected to early life MD. Behavioral responses, including the reaction to novelty, the response to d-amphetamine (d-AMP) and the susceptibility to apomorphine (APO) were evaluated in adulthood. Dopamine (DA) and serotonin (5-HT) levels, their metabolites along with their turnover ratios were assessed in distinct rat brain regions. The impact of MD on DARPP-32 protein, D2 and 5-HT2A receptor expression was also estimated in the same brain regions during adulthood. Our results indicated that MD rats were more reactive to novelty behavior and more sensitive to dopaminergic agonists compared to controls. MD rats displayed elevated dopaminergic and serotonergic function in the amygdala and prefrontal cortex, whereas in the striatum only the dopaminergic activity was also increased. Interestingly, MD induced a region-dependent modulation of D2, 5-HT2A receptor and DARPP-32 protein expression. Our findings clearly indicated that early MD stress produces long term behavioral impairments and region-dependent modifications in various neurochemical and neurobiological indices of dopaminergic and serotonergic function in brain regions holding critical roles in the pathophysiology of central nervous system disorders. © 2013. Published by Elsevier B.V

Distribution of two X-linked trinucleotide polymorphisms in Greece

Objective: To determine the distribution of allele frequencies of two X-linked trinucleotide repeat polymorphisms in five major geographic areas of Greece. Methods: We have studied the distribution of the CGG repeat in the FMR-1 gene and of the CAG repeat in the androgen receptor (AR) gene in 194 and 175 unrelated blood donors, respectively. Results: The distribution of (CGG)n was not significantly different between the four main areas of the Hellenic peninsula, with the exception of an island area in southern Greece, while the distribution of (CAG)n was similar among the groups. The mean repeat number in the FMR-1 gene is 30 and the mean in the AR gene is 21. Conclusions: The Hellenic population is rather homogeneous regarding the X-linked polymorphisms studied. Copyright © 2001 S. Karger AG, Basel

Eugenics between Darwin’s Εra and the Holocaust

Heredity and reproduction have always been matters of concern. Eugenics is a story that began well before the Holocaust, but the Holocaust completely changed the way eugenics was perceived at that time. What began with Galton (1883) as a scientific movement aimed at the improvement of the human race based on the theories and principles of heredity and statistics became by the beginning of the 20th century an international movement that sought to engineer human supremacy. Eugenic ideas, however, trace back to ancient Greek aristocratic ideas exemplified in Plato’s Republic, which played an important role in shaping modern eugenic social practices and government policies. Both positive (encouragement of the propagation of the fit, namely without hereditary afflictions, i.e. socially acceptable) and negative (institutionalization, sterilization, euthanasia) eugenics focused on the encouragement of healthy and discouragement of unhealthy reproduction. All these practices were often based on existing prejudices about race and disability. In this article, we will focus on the rise of eugenics, starting with the publication of Origin of Species to the Holocaust. This examination will be multidisciplinary, utilizing genetics, legal history and bioethical aspects. Through this examination, we will discuss how provisional understandings of genetics influenced eugenics-based legislation. We will also discuss the rise of biopolitics, the change of medical ethos and stance towards negative eugenics policies, and the possible power of bioethical principles to prevent such phenomena. © 2019 Dimitra Chousou, Daniela Theodoridou, George Boutlas, Anna Batistatou, Christos Yapijakis, Maria Syrrou