Contributo al femminile all’educazione tecnica e scientifica per le materie STEM. Fare rete tra scienziate/i, enti, università, associazioni, media e portatori d’interesse

Questo “contributo al femminile” è stato realizzato da un gruppo di perso- ne che ambisce a contribuire al miglioramento dell’educazione scolastica; è destinato a donne, uomini, ragazze, ragazzi, bambine e bambini per mettere in luce potenzialità, diseguaglianze, specificità di vita e professionali e favorire la parità di genere soprattutto negli ambiti tecnico-scientifici, in particolar modo nelle discipline STEM (Science, Technology, Engineering, Mathematics)

Genetics of migraine and pharmacogenomics: some considerations

Migraine is a complex disorder caused by a combination of genetic and environmental factors

HLA-DRB1 and -DQB1 loci in three west African ethnic groups: Genetic relationship with sub-Saharan African and European populations

7 páginas, 3 figuras, 4 tablas.-- et al.The Fulani of west Africa have been shown to be less susceptible to malaria and to mount a stronger immune response to malaria than sympatric ethnic groups. The analysis of HLA diversity is useful for the assessment of the genetic distance between the Fulani and sympatric populations, which represents the necessary theoretical background for the investigation of genetic determinants of susceptibility to malaria. We assessed the polymorphism of HLA-DRB1 and -DQB1 loci and analyzed the distribution of alleles/haplotypes in Fulani, Mossi, and Rimaibé from Burkina Faso. We then investigated the genetic relationship of these three ethnic groups with other sub-Saharan African populations as well as with Europeans. We confirmed that the Fulani from Burkina Faso are genetically distinct from sympatric Mossi and Rimaibé. Furthermore the Fulani from Burkina Faso are close to those from The Gambia and, intriguingly, share the distribution of specific alleles with east African populations (Amhara and Oromo). It is noteworthy that the HLA-DRB1*04 and -DQB1*02 alleles, which are implicated in the development of several autoimmune diseases, are present at high frequency in the Fulani, suggesting their potential involvement in the enhanced immune reactivity observed in this population.This work is part of the activities of the BioMalPar European Network of Excellence supported by a European grant (LSHP-CT- 2004-503578) from the Priority 1 “Life Sciences, Genomics and Biotechnology for Health” in the 6th Framework Programme, and V.D.M. was funded by a BioMalPar PhD Fellowship. This work was further supported by grants from Italian Ministry of Education (COFIN, MIUR-PRIN 2006062857) and Istituto Pasteur–Fondazione Cenci Bolognetti, Sapienza Universitá di Roma.Peer reviewe

Modifications of nuclear architecture and chromatin organization in ataxia telangiectasia cells are coupled to changes of gene transcription

Ataxia telangiectasia (AT) is a rare genetic disorder caused by mutations of ATM gene. ATM kinase is a "master controller" of DNA-damage response and signal transducer of external stimuli. The complex role of ATM may explain the pleiotropic phenotype characteristic of AT syndrome, only partially. In our hypothesis, the multi-faceted phenotype of AT patients might depend on specific chromatin reorganization, which then reflects on the cellular transcription. We analyzed three lymphoblastoid cell-lines isolated from AT patients and one healthy control. The three-dimensional reconstruction disclosed marked changes of nuclear morphology and architecture in AT cells. When chromatin condensation was analyzed by differential scanning calorimetry, a remodeling was observed at the level of fiber folding and nucleosome conformation. Despite the structural differences, chromatin did not exhibit modifications of the average acetylation status in comparison to the control. Moreover, AT cells presented significant alterations in the transcription of genes involved in cell-cycle regulation and stress response. In AT3RM cells, the average chromatin decondensation went with the upregulation of c-fos, c-jun, and c-myc and downregulation of metallothioneins, p21 and p53. AT9RM and AT44RM cells were instead characterized by an increased chromatin condensation and presented a different transcription unbalance. Whereas in AT44RM all the considered genes were downregulated, in AT3RM the three oncogenes and metallothioneins were upregulated, but p53 and p21 were downregulated

Tumor necrosis factor (TNF) –B gene polymorphysm contributes to the susceptibility to migraine without aura

Migraine without aura (MWOA) and migraine with aura (MWA) are disorders in which multiple factors, including environmental and genetic factors, are involved. In a previous study we hypothesized a protective role of HLA-DR2 antigen, providing additional basis for the proposed genetic heterogeneity between MWOA and MWA. The cytokines TNFA and TNFB are polypeptide effectors of inflammatory reaction and endothelial function. To better define the involvement of HLA region genes in migraine, we performed an association study of the tumor necrosis factor (TNF) genes, located in the HLA class III region, with MWOA and MWA. TNFB alleles 1 and 2 were analyzed by PCR-RFLP in 30 MWOA patients, in 47 MWA patients and in 101 random controls. The frequency of TNFB*2 was significantly increased in MWOA patients as compared with controls (78.72% vs. 61.4%, p c = 0.004), while no significant differences were found between MWA patients and controls. The distribution of TNFB genotypic frequencies showed a significant decrease of TNFB 1,1 homozygotes in MWOA patients (p c = 0.0201). The observed increase of TNFB*2 in MWOA is dustributed in TNFB 2,2 and TNFB 1,2 genotypes, meaning that the susceptibility allele could act as “dominant”: people with TNFB 1,1 genotype are less predisposed to the disease. While more studies are needed in larger migraine samples to reinforce the statistical power of the reported data, the present study supports the hypothesis that TNFB is a susceptibility gene in MWOA