International Conference on Biochemistry October 10-12, 2016 Kuala Lumpur, Malaysia

E Wloka has completed her PhD from the Institute of Parasitology-PAS. She has published 20 conference reports, 12 original papers (9 in the JCR journals) and 4 other publications in the JCR journals which are currently in the press. In 2012 and 2013 she obtained the Prize of the Director of the Institute of Parasitology for Scientific Achievements. She has participated in 28 training sessions dedicated to various laboratory techniques. Since 2014, she has been active as a Local Coordinator of the Science Festival (event organized in Poland by scientists for people not related to science).

Entomopathogenic fungi are important natural regulatory factors of insect populations. They invade insects through the cuticle by a combination of mechanic pressure and enzymatic degradation. Insecticidal fungi produce several cuticle degrading proteases, chitinases and lipases. Among proteases of soil fungus Conidiobolus coronatus, elastase seems to play a key role in the hydrolysis of cuticle. Although mechanisms of enzymatic degradation of cuticle are intensively studied, the reasons of insects’ differential susceptibility to fungal infection remain obscure. Susceptibility or resistance of various insect species to fungal invasion may result from the species-specific composition of the cuticle. We have examined effects of supplementation of the C. coronatus minimal culture medium with compounds previously detected in insect cuticle, on the activity of C. coronatus elastase. As additives elastin, chitin, N-acetylglucosamine, 11 fatty alcohols, 16 fatty acids, tocpoherol acetate, butyl oleate, glycerol oleate, squalene and butyl stearate were used. It was found that cuticular compounds have various effects on the elastase activity: elastin, fatty acids C13:0 and C14:1 increased the elastase activity, whereas, fatty acid C26:0 and squalene decreased elastolytic activity. Obtained data suggested that cuticular compounds repressing activity of elastase might be responsible, at least in part, for the resistance to fungal infection.

Do Thi Thu Hang has obtained her PhD in Pharmacy in Sungkyunkwan University, South Korea in 2009 and did Postdoctoral training in Molecular and Cellular Immunology at QIA, South Korea and then at Deakin University, Australia from 2009-2012. From 2005-2009, her research focused on molecular mechanisms underlying pathogenesis of Alzheimer’s disease and H1N1 influenza virus infection. She has returned to Vietnam in 2012 and started her new research on genetics of severe epilepsy syndromes, especially of Dravet syndrome. She is interested in applying next-generation sequencing for research and clinical molecular diagnostics.

Background: Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately 70-80% of DS cases are caused by mutations in SCN1A, the gene encoding the alpha-1 subunit of the sodium channel, while some proradic cases would have variants in several other genes including but not limited to PCDH19, GABRG2, SCN1B, SCN9A and CHD2.\r\nPurpose & Methods: We performed whole-exome sequencing in 6 SCN1A-negative patients with Dravet syndrome in order to identify other related genes for this disorder. The exome sequencing libraries of 14 individuals, including 4 parent–proband trios and 2 unrelated probands were prepared using the SureSelectXT Library Prep Kit and the obtained libraries were sequenced on an Illumina HiSeq 4000. The candidate variants were interpreted and classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines.\r\nResults: In one affected individual, we detected a novel de novo heterozygous missense mutation p.Arg232Gln in GABRB3, the gene encoding the β3-subunit of the gamma-aminobutyric acid type A (GABAA) receptor, which mediates inhibitory signaling within the central nervous system. Furthermore, a heterogeneous SCN1A variant p.Arg393His that had been undetected by previous Sanger sequencing was revealed in another patient, whose father was mosaic to the variant.\r\nConclusion: Our result extended the genetic basis of Dravet syndrome and confirmed the utility of whole-exome sequencing in genetic diagnosis.\r\n