2^nd World Congress on HUMAN GENETICS September 14-15, 2017 Edinburgh, Scotland

Biography:

Ellie Wright is passionate about research in the field of natural medicine. She obtained a Bachelor Degree at Arizona State University with Summa Cum Laude in 2008. In 2010, she graduated with a Master’s degree (ASU) and graduate certificate in Geriatric and Gerontology from Arizona University. In 2015, she received a Doctoral Degree from Southwest College of Naturopathic Medicine, Tempe, AZ, USA.

Abstract:

Recent studies suggest that the gut microbiota modulates brain health and neuroinflammation. More and more evidence points to gut microbiota as a very important determining factor for prevention of neurodegenerative diseases. This research aims to look at the latest findings in the gut microbiota and their role in neurodegenerative disease like ALS, Parkinson's disease, Alzheimer's disease and Multiple Sclerosis. In a bidirectional system of gut-brain when the composition of gut microbiota is altered and leads to an increase intestinal permeability allowing bacterial peptidoglycan to translocate to the brain. Some gut microbiota implicated in the reactions of peptides or short chain fatty acids could affect gene expression and inflammation within the central nervous system. Some studies suggest that GI tract microbiota secrete pro-inflammatory neurotoxins including surface lipopolysaccharides (LPSs) playing a role in the brain health. The complex communication gut-brain involves the neural and humoral pathways with three cytokines implicated in signaling pathways TNFα, IL-1β, and IL-6. The gut-microbiota-to-brain routes have received increasing attention for their ability to modulate brain function and this research aims to review the possible underlying mechanisms of neuroinflammation and neurodegeneration related to the gut microbiota.

Biography:

I'm Maram26 years old, completed my master degree at the age of 23 years, in Ben Gurion University in Israel. Now i'm at the third year of my PhD in Genetics at Ben Gurion University in Israel. I puplished two papers, and presnting 3 posters in different conference.

Abstract:

Introduction: Infertility is defined as a failure of conception after 12 months of having unprotected intercourse, and male infertility accounts for 30–55% of  infertile couples. Azoospermia, is diagnosed when sperm is completely absent in the ejaculate even after centrifugation.

Materials and Methods: Genotyping was done on four azoospermic individuals of a consanguineous Bedouin family and their parents. Exome sequencing was performed on the DNA of one patient.

Results: Assuming homozygosity of a recessive founder mutation as the likely cause of the disorder, we have genotyped 4 patients and their parents. We identified 5 shared homozygous regions larger than 2 cM, encompassing a total of 13.8Mbp on the autosomal chromosomes. In these regions only one homozygous variant with allele frequencies of less than 1% in the public databases (ExAc browser, 1000 Genomes and dbSNP) was identified. This variant segregated as expected in the family, with a calculated Lod score of 3.42. The variation was not present in 620 Bedouin controls.

The variation is a frameshift mutation in a gene encoding a protein demonstrated to be essential for silencing of Line-1 retrotransposon in the male germline. Using a commercial antibody to the N-terminus of the encoded protein, immunofluorescent studies demonstrated it is produced in patients' testes, especially in spermatogonial cells (mainly in the cytoplasm) and in spermatocysts/round spermatids (mainly in the nucleus).

Discussion: The identification of the mutation causing azoospermia enables accurate diagnosis in the enlarged family and demonstrates the importance of repressing retrotransposon activation in the male germline in human.

Biography:

Diana Carolina Polania Villanueva has completed her Master's degree in Biological Sciences at Universidad de Los Andes. She is pursuing her PhD in Biology at the same university. She is currently conducting a research on the characterization of the DNA demethylation pathway using as biological models Diabetes and Cancer. Her research fields include Epigenetics, Genetics of Human Coagulopathies such as Hemophilia and von Willebrand disease, and Molecular Epidemiology of Cancer.

Abstract:

Type 2 Diabetes Mellitus (T2DM) is characterized by hyperglycemia and increased oxidative stress that could lead to chronic micro and macro-vascular complications. We hypothesized that part of the target organ damage is mediated by involving the epigenetic mechanism of DNA demethylation. It is currently believed that this process is catalyzed by the TET enzyme family; however, we explore another pathway mediated by high cellular oxidative environment, like the one present in diabetes. We measured glycated hemoglobin (HbA1C %) and global DNA methylation and hydroxymethylation in peripheral blood cells in 79 subjects: 19 well-controlled and 25 poorly controlled patients with T2DM, and 35 healthy controls. We also analyzed microarrays of DNA methylation and gene expression of other important tissues in the context of diabetes from the GEO database repository. According to the results, levels of DNA methylation and DNA hydroxymethylation were increased in poorly controlled patients compared to well controlled and healthy individuals (p=0.0039 for 5 mC, and p=0.0034 for 5 hmC). The analysis of methylation microarrays of the same tissue was concordant since levels of 5 mC were increased in T2DM blood as compared to controls. However, the levels of DNA methylation and hydroxymethylation in peripheral blood cells were contrary to the ones observed in other tissues such as pancreas, adipose tissue and skeletal muscle. Analysis of gene expression associated with DNA demethylation indicates that the TET-mediated enzymatic demethylation pathway is not sufficient to explain the changes found, and therefore there is a new and non-enzymatic pathway mediated by oxidative stress.

Biography:

Nguyen Thi Phuong Mai has completed her Master of Science at the age of 31 years from University of Technology and Science in Hanoi, Vietnam. Now, she is a Ph.D student of Institute of Genome Research, Vietnam Academic of Science and Technology in Hanoi, Vietnam. She is a vice-head of Human Genetics Department in National Children’s Hospital. She has publish more than 10 papers in reputed journals.

Abstract:

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. More than 90% of CAH cases are due to 21-hydroxylase deficiency (21OHD). Mutations in the CYP21A2 gene are affected to 21-hydroxylase activity deficiency. The frequency of mutations in the CYP21A2 gene is due to different populations and there is a correlation between genotype and phenotype. This study was performed in 60 Vietnamese children (120 alleles) suspected with congenital adrenal hyperplasia. Total DNA extraction from whole blood and we use sequencing and MLPA techniques to identified mutations in CYP21A2 gene. We identified 10 cases (16.7%) with heterozygous of mutations; 9 cases (15%) with homozygous of mutations, 19 cases (31.7%) with compound heterozygous of mutations and 22 patients (36.7%) have no mutations. The mutation 30kb deletion is the most common mutation with 17 alleles (14.2%); I172N with 14 alleles (11.7%); I2G with 12 alleles (10%); Promoter conversion with 5 alleles (4.2%); R356W with 4 alleles (3.3%), the others were rare mutations such as V281L; V304M; Q318X.... Sequencing and MLPA techniques were accurate for screening mutations in CYP21A2 gene. The genotype datas will be helpful for the treatment and prenatal testing.

Biography:

Abstract:

Biography:

Gustav Milne studied archaeology at Oxford and London University, and worked as an archaeologist for the Museum of London since 1973, excavating sites and publishing many reports and books. He then joined  the UCL Institute of Archaeology where he lectured for a further 25 years.  He helped set up the Museum of London’s Centre for Human Bioarchaeology and the Evolutionary Determinants of Health programme, where archaeologists worked with a consortium including microbiologists, architects and transport planners. The project was  launched at UCL in 2014, and Gustav’s book  Uncivilised Genes: human evolution and the urban paradox’ was published in 2017.

Abstract:

This paper is concerned with the prevention or containment of World Health Organisation’s ten most common fatal diseases or conditions in modern urban populations. This ambitious target could be achieved over time given a greater understanding of the Evolutionary Determinants of Health.

The underlying concept lies in our evolutionary biology. As recent genetic research has shown, we share 98% of our genome with the chimpanzee (Pan troglodytes), and thus have a common ancestor, from which our lineage diverged some 6million years ago. Subsequently the human branch adopted bi-pedal hunter-gatherer-style cultures, living in small tribal societies in the wild, wide open spaces. Through the unbending rigours of natural selection, a particular physiology, dentition and metabolism developed together with their associated digestive and respiratory systems as well as associated psychological traits. This part of our DNA directly supporting those ancestral lifestyles is termed our Palaeolithic Genome: it still remains with us, largely unchanged, although culturally we have evolved at an electric pace. There is therefore a mismatch between our modern urban lives and our basic biology, manifesting itself in the alarming increase the incidence of obesity, diabetes, various coronary issues and cancers. Significantly, such problems seem to be rare in non-urbanised societies, such as the Kitava community in Papua New Guinea as a detailed study by Dr Staffan Lindeberg has shown.

If our urban lifestyles,  architecture and even town plans were reconfigured on evolutionary-concordant lines, our health,  immune systems and wellbeing would be significantly enhanced. Uncivilized genes can materially improve tomorrow’s civilisations.

Biography:

Nguyen Thi Phuong Mai has completed her Master of Science at the age of 31 years from University of Technology and Science in Hanoi, Vietnam. Now, she is a Ph.D student of Institute of Genome Research, Vietnam Academic of Science and Technology in Hanoi, Vietnam. She is a vice-head of Human Genetics Department in National Children’s Hospital. She has publish more than 10 papers in reputed journals.

Abstract:

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. More than 90% of CAH cases are due to 21-hydroxylase deficiency (21OHD). Mutations in the CYP21A2 gene are affected to 21-hydroxylase activity deficiency. The frequency of mutations in the CYP21A2 gene is due to different populations and there is a correlation between genotype and phenotype. This study was performed in 60 Vietnamese children (120 alleles) suspected with congenital adrenal hyperplasia. Total DNA extraction from whole blood and we use sequencing and MLPA techniques to identified mutations in CYP21A2 gene. We identified 10 cases (16.7%) with heterozygous of mutations; 9 cases (15%) with homozygous of mutations, 19 cases (31.7%) with compound heterozygous of mutations and 22 patients (36.7%) have no mutations. The mutation 30kb deletion is the most common mutation with 17 alleles (14.2%); I172N with 14 alleles (11.7%); I2G with 12 alleles (10%); Promoter conversion with 5 alleles (4.2%); R356W with 4 alleles (3.3%), the others were rare mutations such as V281L; V304M; Q318X.... Sequencing and MLPA techniques were accurate for screening mutations in CYP21A2 gene. The genotype datas will be helpful for the treatment and prenatal testing.

Biography:

Ayça Dilara YILMAZ has completed her PhD at the age of 37 years from Ankara University Biotechnology Department and postdoctoral studies from Ankara University Faculty of Dentistry. She is a post-doctoral researcher, in the Molecular Biology Laboratory of the faculty.
 

Abstract:

Genetic association study between ESR1 and Temporomandibular joint internal derangement: Temporomandibular joint internal derangement (TMJ-ID) is the imbalance of metabolic processes in the extracellular matrix (ECM) of the articular disc, that progressively degrades causing tissue breakdown. Estrogen receptor alpha (ESR1) is found in the intra-articular cartilage and ESR1 polymorphisms are candidates for association with the disorder.

The aim of this study was to investigate the association of XbaI and PvuII polymorphisms with TMJ-ID disorder. 48 unrelated TMJ-ID patients (31.7 ±7.9) (38 female, 10 male)  and 70 healthy controls (28.22 ±5.9) (33 female, 37 male) without TMJ-ID. Also, TMJ-ID patients were grouped as anterior disc displacement with reduction (ADDWR) (n=23) and anterior disc displacement without reduction ADDWOR (n=25). Blood samples were obtained and DNA was extracted by standard proteinase K/phenol-chloroform method. PvuII and XbaI polymorphisms of ESR1 gene were investigated by a polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP). In PvuII polymorphism, TMJ-ID patients, ADDWR and ADDWOR cases carrying the Pp/pp genotype had 1.28/1.27, 1.43/1.90 and 1.18/0.81 fold risk for developing the disorder although not significant. p allel was found to be 1.33 fold risk factor in ADDWR cases (CI:0.68-2.60, p=0.4) compared to the healthy group. In XbaI polymorphism, ADDWR cases carrying the Xx and xx genotype had 1.50 and 1.85 fold risk for developing the disorder although not significant. Carrying the x allel  in ADDWR cases had a 1.33 fold risk compared to the control group (CI: 0.68-2.62, p=0.4). Female TMJ-ID patients were compared to healthy female; the difference in genotype/allelic distributions and the odds ratios were not significant for PvuII and XbaI polymorphisms. The finding that PvuII and XbaI polymorphisms has high risk for developing TMJ-ID disorder needs to be further evaluated by increasing the case and controls numbers. A polymorphism in the ESR1 gene may be associated to TMJ-ID.