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M Dohal, I Porvaznik, P Kusnir and J. Mokry

-resistant Tuberculosis. Med Clin North Am. 2013;97(4):553-79. 9. Cirillo DM, Miotto P, Tortoli E. Evolution of Phenotypic and Molecular Drug Susceptibility Testing. Adv Exp Med Biol. 2017;1019:221-246. 10. Cole ST, Brosch R, Parkhill J, et al. Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence. Nature. 1998;393(6685):537-44. 11. Black PA, De vos M, Louw GE, et al. Whole genome sequencing reveals genomic heterogeneity and antibiotic purification in Mycobacterium tuberculosis isolates. BMC Genomics. 2015;16:857. 12. Galagan JE

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Andrei Crauciuc, Florin Tripon, Andreea Gheorghiu, Georgiana Nemes, Alina Boglis and Claudia Banescu

References 1. Yang GK, Jooyen C, Srinivasan C. Hybrid restriction enzymes: Zinc finger fusions to Fok I cleavage domain. Proc Natl Acad Sci USA. 1996;93:1156-1160. 2. Carroll D, Charo RA. The societal opportunities and challenges of genome editing. Genome Biology. 2015;16(1):1-9. 3. Xue HY, Ji LJ, Gao AM, Liu P, He JD, Lu XJ. CRISPR-Cas9 for medical genetic screens: applications and future perspectives. J Med Genet. 2016;53:91-97. 4. Ishino Y, Shinagawa H, Makino K, Amemura M, Nakata A

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Yana N. Feodorova and Victoria S. Sarafian

;138(3):891-9. 11. Yehuda R. Advances in understanding neuroendocrine alterations in PTSD and their therapeutic implications. Ann N Y Acad Sci 2006;1071:137-66. 12. Carvalho LA, Garner BA, Dew T, et al. Antidepressants, but not antipsychotics, modulate GR function in human whole blood: an insight into molecular mechanisms. Eur Neuropsychopharmacol 2010;20(6):379-87. 13. Cole SW, Hawkley LC, Arevalo JM, et al. Social regulation of gene expression in human leukocytes. Genome Biol 2007;8(9):R189. 14. de Quervain DJ, Aerni A, Schelling

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Alina Martinescu, Irina Franciuc and Loredana-Mariana Aftenie

Abstract

Genome scan, linkage and association studies have identified CMH genes in the genetic determinism of most autoimmune diseases, affecting approximately 5% of the population. The susceptibility conferred by HLA alleles does not influence the development of autoimmunity in general, but rather the probability of some disorders. From extremely high number of known HLA alleles, less than 30 are associated with diseases, and fewer than 10 are involved in the strongest associations. The aim of this study was to determine HLA genes in autoimmune diseases. The method used for the assignment of HLA alleles was molecular genotyping, primarily by the sequence specific oligonucleotide hybridization method (SSO), and when required, by the sequence specific primers method (SSP). Molecular genotyping was performed in 282 cases of diabetes mellitus type 1, Hashimoto thyroiditis, Graves’ disease and ankylosing spondylitis. HLA typing in patients with autoimmune diseases is important for determining prognosis and genetic counseling. In ankylosing spondylitis HLA typing is used for differential diagnosis. In such studies it’s important to be aware that there is a particular HLA gene expression depending on the geographic area.

Open access

Ganna M. Shayakhmetova, Larysa B. Bondarenko, Anatoliy V. Matvienko and Valentina M. Kovalenko

ABSTRACT

There is good evidence for impairment of spermatogenesis and reductions in sperm counts and testosterone levels in chronic alcoholics. The mechanisms for these effects have not yet been studied in detail. The consequences of chronic alcohol consumption on the structure and/or metabolism of testis cell macromolecules require to be intensively investigated. The present work reports the effects of chronic alcoholism on contents of free amino acids, levels of cytochrome P450 3A2 (CYP3A2) mRNA expression and DNA fragmentation, as well as on contents of different cholesterol fractions and protein thiol groups in rat testes. Wistar albino male rats were divided into two groups: I - control (intact animals), II - chronic alcoholism (15% ethanol self-administration during 150 days). Following 150 days of alcohol consumption, testicular free amino acid content was found to be significantly changed as compared with control. The most profound changes were registered for contents of lysine (-53%) and methionine (+133%). The intensity of DNA fragmentation in alcohol-treated rat testes was considerably increased, on the contrary CYP3A2 mRNA expression in testis cells was inhibited, testicular contents of total and etherified cholesterol increased by 25% and 45% respectively, and protein SH-groups decreased by 13%. Multidirectional changes of the activities of testicular dehydrogenases were detected. We thus obtained complex assessment of chronic alcoholism effects in male gonads, affecting especially amino acid, protein, ATP and NADPH metabolism. Our results demonstrated profound changes in testes on the level of proteome and genome. We suggest that the revealed metabolic disorders can have negative implication on cellular regulation of spermatogenesis under long-term ethanol exposure.

Open access

Diana G. Ivanova and Tatyana M. Yankova

Abstract

This overview is an attempt to throw a fresh look at the popular free radical theory of aging (referred to also as oxidative stress theory) which holds that the progressive decline in physiological functions is a result of accumulation of diverse deleterious changes caused by reactive oxygen species (ROS). We discuss the role of mitochondria as a major source of ROS in the cell and how these link accumulation of oxidative damage to the age-related changes in physiologic functions. The free radical theory of aging is analysed here from two different views of aging - one (the pessimistic view) that regards aging as the inevitable result of life activity the consequences of which are accumulation of errors in the genome and damage of the biomolecules, and the other (the optimistic view) which considers that it is the changes in mitochondrial pathways of apoptosis with age that cause the functional tissue changes and aging.

We also discuss the possibility of delaying the aging process by appropriate diet or drug therapy, which includes also calorie restriction as a mechanism of modifying the generation of free radicals and body metabolism and thus extending lifespan as a result.

Open access

Wichit Thaveekarn, Sunchai Payungporn, Narumol Pakmanee, Sunutcha Suntrarachun, Suchitra Khunsap and Suthidee Petsong

genomic extraction kit (QIAamp DNA Mini Kit, Qiagen). Construction of the library and sequencing were performed by the Biochemistry Department, Medicine Faculty, Chulalongkorn University, Thailand. The library was prepared using a NEBNext Ultra DNA Library Prep Kit for Illumina. Whole genome sequencing and assembly were analyzed using a HiSeq 2000 Illumina system (New England Biolabs). PCR and DNA sequencing of the RD16 region (Rv3405c) Genomic DNA from the working seed BCG (lot No. FB03012) was extracted using a genomic extraction kit (QIAamp DNA Mini Kit, Qiagen

Open access

Tatyana M. Kichukova, Nikolay T. Popov, Ivan S. Ivanov and Tihomir I. Vachev

References 1. Holt R, Monaco AP. Links between genetics and pathophysiology in the autism spectrum disorders. EMBO; Mol Med 2011;3(8):438-50. 2. Sarachana T, Zhou R, Chen G, et al. Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profi ling of lymphoblastoid cell lines. Genome Med 2010;2(4):23. 3. Abu-Elneel K, Liu T, Gazzaniga FS, et al. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics 2008

Open access

Hristo Y. Ivanov, Vili K. Stoyanova, Nikolay T. Popov and Tihomir I. Vachev

quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002;70:60-71. 31. Schellenberg, GD, et al. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry 2006;11:1049-60. 32. Weiss LA, Arking DE, Daly MJ, et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009;461:802-8. 33. Wang K, Zhang H, Ma D, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009;459:528-33. 34. Anney R, Klei L, Pinto D, et al. A genome-wide scan

Open access

Hande Keser, Michael Barnes, Gregory Moes, Han Sung Lee and Tarık Tihan

, Mulder HL, Tang C, Ochoa K, Mullighan CG, Gajjar A, Kriwacki R, Sheer D, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Baker SJ, Ellison DW; St. Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project. Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nature Genetics. 2013; 45:602-12.