Day 2 :
Keynote Forum
Vojin Rakić
Center for the Study of Bioethics- University of Belgrade, Serbia
Keynote: What is involuntary moral enhancement?
Time : 09:30-10:30
Biography:
Abstract:
Keynote Forum
Meena Upadhyaya
Cardiff University, UK
Keynote: Recent developments in neurofibromatosis type 1 and RASopathies: Novel therapeutic targets
Time : 11:00-12:00
Biography:
Abstract:
- Immunogenetics | Thalassemia | Genetic Diseases | Human Genetics | Nutrigenomics | Human Evolutionary Genetics | Pharmacogenomics and Pharmacogenetics | Regenerative Medicine | Genetic Counseling | Neurogenetics | Epigenetics | Behavioural Genetics
Session Introduction
Mohammed Chyad Hammoodi Al-Noaemi
Al-Ghad International College for Applied Medical Sciences, KSA
Title: A family cases report of tyrosinemia type-1 from Najran province of Saudi Arabia
Time : 12:00-12:30
Biography:
Abstract:
Biography:
Abstract:
Zeinab Deris Zayeri
Ahvaz Jundishapur University of Medical Sciences, Iran
Title: A novel infram deletion in MSH6 gene in glioma: Conversation on MSH6 mutations in brain tumors
Time : 14:00-14:30
Biography:
Abstract:
Fawz ALHarthi
King Saudi Medical City, Saudi Arabia
Title: Attitudes toward pre-implantation genetic diagnosis vs. pre-natal diagnosis in Saudi Arabian couples with children with genetic disorders
Time : 14:30-15:00
Biography:
Abstract:
Manisha Mishra
All India Institute of Medical Sciences, India
Title: Association of MMP2 gene polymorphisms (-735C/T and -1306C/T) in preeclamptic patients in Indian population
Time : 15:00-15:30
Biography:
Abstract:
Background & Aim: Imbalanced Matrix Metalloproteinase (MMP) expression, including MMP-2, has been demonstrated in pre-eclampsia. However, little is known about the effect of MMP-2 gene polymorphisms on hypertensive disorders of pregnancy. Therefore, we examined Matrix Metalloproteinase (MMP-2) gene polymorphisms (g.-735C/T) and its association with Preeclampsia (PE) and measured the levels of MMP-2 serum concentrations in PE. Method: 30 preeclamptic and 30 healthy pregnant women were enrolled from department of obstetrics and gynaecology, AIIMS, New Delhi after getting approval from Institute ethical committee. Genomic DNA was extracted from blood and amplified by PCR. MMP2 gene polymorphisms of -735C/T was detected by Restriction Fragment Length Polymorphism (RFLP). The levels of MMP2 in sera were measured by ELISA. Result: The maternal serum MMP2 levels was found to be more in PE patients than in control group (p=0.03). The increased frequency of CT genotype for MMP2 (-735C/T) Single Nucleotide Polymorphism was seen in PE patients as compared to control group. However the difference in genotype frequency was not statistically significant (p=0.35). Conclusion: These findings may help to understand the relevance of MMP-2 and its genetic polymorphisms to the pathophysiology of hypertensive disorders of pregnancy like preeclampsia and IUGR.
Nada Abuarab
King Saud Bin Abdul-Aziz University for Health Sciences, Saudi Arabia
Title: High glucose–induced ROS activates TRPM2 to regulate organelle zinc homeostasis and mitochondrial fragmentation
Time : 16:00-16:30
Biography:
Abstract:
Mitochondria plays a central role in oxidative stress induced cell death. By increasing the production of reactive oxygen species, such as H2O2, oxidative stress causes mitochondrial fragmentation and apoptosis. Mechanisms by which oxidative stress leads to apoptosis, however, are not fully understood. Here we hypothesised that Transient Receptor Potential Melastatin 2 (TRPM2) channels play a role in mitochondrial fragmentation. The rationale behind this is the previous evidence that TRPM2 channels are activated by H2O2 and conduct ions (Ca2+ and Zn2+) that affect mitochondrial health and cell survival. To test our hypothesis we have used live-cell imaging, immunostaining, biochemical techniques and cell death assays. Exposure of Human Umbilical Vein Endothelial Cells (HUVECs) to H2O2 led to an increase in Zn2+ levels in the mitochondria and a reduction in lysosomes. This redistribution was accompanied by an extensive fragmentation of mitochondria and an increase in cell death. Silencing of TRPM2 channel prevented intracellular Zn2+ redistribution, mitochondrial fragmentation and cell death. TRPM2 activation increased recruitment of Dynamin-Related protein 1 (Drp1) to mitochondria, thereby increasing mitochondrial fission. Moreover, the data indicated that TRPM2 is expressed in lysosomes presumably to mediate Zn2+ release. Endothelial cells derived from TRPM2 knock-out mice were resistant to oxidative stress-induced mitochondrial fragmentation. In conclusion, our data revealed a novel mechanism where H2O2 activation of TRPM2 causes a redistribution of Zn2+ from lysosomes to mitochondria, resulting in mitochondrial fragmentation and endothelial cell death. Since mitochondrial fragmentation is associated with several age-related chronic illnesses including neuronal (Alzheimer’s, Parkinson’s), cardiovascular (atherosclerosis, myocardial infarction) and metabolic/inflammatory (diabetes) disorders, our results reveal TRPM2 channel as potional therapeutic intervention of age-related illnesses.
Mavlyanova Shakhnoza Zakirovna
Ministry of Health of the Republic of Uzbekistan, Uzbekistan
Title: The role of the polymorphic variant of the IIe 105Val genes of the GSTP1 in the mechanism of the development of allergic skin diseases in Uzbekistan
Time : 16:30-17:00
Biography:
Abstract:
Aim: It is the study of polymorphism of genes of enzymes of biotransformation of xenobiotics in patients with allergic skin diseases. Material & Methods: Patients with allergic dermatoses (AlD), DNA samples of patients and healthy donors, glutathione-transferase GSTM1 (1p13.3), GSTT1 (22q11.2) and IIe 105Val genes of the GSTP1 gene were the object and subject of the study. The study included 88 patients with AlD age ranging from 5 to 67 years. Of these, 41 are women, 50 are men. The diagnosis in all patients is confirmed by the results of the clinical examination and laboratory tests. Results: Among patients with allergic dermatoses, individuals with combined functionally inferior genotypes GSTM10/0+GSTT10/0 were more common than in the group of healthy individuals (6.8% vs. 4.1%, respectively, χ2=0.5; P=0.4; OR=1.7, 95% CI 0.405-6.979). The obtained data indicate that in individuals with zero genotypes of genes of xenobiotic enzymes GSTM1 and GSTT1 there is a tendency to the risk of allergic dermatosis development. Whereas, with the combined variants of zero and functional genotypes of polymorphism of the GSTM1 and GSTT1 genes, there were no statistically significant differences between the groups studied (p>0.05). While the frequency distribution of the occurrence of alleles and genotypes of GSTP1 in the group of patients with allergodermatosis, in comparison with the control group, significant differences were found. The functionally unfavorable allele G of the GSTP1 gene was 3.4 times statistically significantly more prevalent in the studied chromosomes of allergic dermatoses than in the population sample (χ2=10.8; P<0.05; OR=3.4; 95% CI 1.6-7.4). The associations of functionally unfavorable A/G genotypes were identified (χ2=6.9, P<0.05, OR=2.6, 95% CI 1.264-5.382) and G/G (χ2=8.0; P<0.05; OR=11.2; 95% CI 1.421-88.43) with the development of allergic dermatoses. Conclusion: Genes of glutathione transferase, polymorphism IIe 105 Val of the GSTP1 gene is the most significant marker of an increased risk of allergic skin diseases in Uzbekistan.