by Camila Sandoval  , Colleen A Lambo  and Michael Carey Satterfield

Received: 01 June 2018;  Published: 28 December 2018;  doi: 10.21926/obm.genet.1804058

Understanding the pathophysiology of disease can be an essential step to determining where and how to intervene for preventive or corrective health. Intrauterine growth restriction (IUGR) has been defined in livestock species as impaired gestational development of a fetus or its parts [1]. This broad category of ailments described by low fetal weight is accompanied by susceptibility to adult onset of chronic disease through fetal programming of numerous organ systems and their functions. This co [...]

by Whitney Rabacal  , Emily Rayens  and Karen Norris

Received: 02 November 2018;  Published: 27 December 2018;  doi: 10.21926/obm.genet.1804057

Pneumocystis causes life-threatening pneumonia in immunocompromised populations. More recently it has been implicated as a co-factor in a number of chronic lung diseases including chronic obstructive pulmonary disease (COPD), severe asthma, and cystic fibrosis (CF). In this review, we will examine the current literature regarding Pneumocystis and lung diseases in the HIV-infected patients and non-HIV immunocompromised populations, and the barriers to prophyl [...]

by Ameya Patil  , William E Sweeney  and Ellis D. Avner

Received: 07 August 2018;  Published: 23 December 2018;  doi: 10.21926/obm.genet.1804056

Renal cysts are present in a wide variety of hereditary renal diseases in children. The term polycystic kidney disease (PKD) refers to two specific hereditary diseases, distinguished by the usual age of onset and genetic cause: autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF, MIM *606702) and autosomal dominant polycystic disease (ADPKD-OMIM *601313 and OMIM *173910). ARPKD/CHF is characterized by cystic dilations of the renal collecting ducts and development [...]

by Taylor Lawrence  and Therese M. Murphy

Received: 29 October 2018;  Published: 19 December 2018;  doi: 10.21926/obm.genet.1804055

Telomeres are TTAGGG repeats located at the end of chromosomes that maintain DNA stability. Telomere length (TL) has been widely implicated as a marker of biological age, and is associated with several human diseases, including depression, cardiovascular disease and cancer. Twin studies and cohort studies estimate heritability of TL between 78-82%. Moreover, several genomic loci which influence TL have been identified. Despite the success of genetic studies in furthering our understanding of tel [...]

by Cristina Bagacean  , Anne Bordron  , Tempescul Adrian  , Jean Christophe Ianotto  , Gaelle Guillerm  , Wesley H Brooks  , Marie-Anne Couturier  , Mihnea Zdrenghea  , Christian Berthou  and Yves Renaudineau

Received: 05 June 2018;  Published: 14 December 2018;  doi: 10.21926/obm.genet.1804054

Epigenetic dysregulation is present in both myeloid and lymphoid disorders, with important differences reported between myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML), on one hand, and chronic lymphocytic leukemia (CLL), on the other. Qualitative differences are reported in MDS/AML with gene fusions (e.g. TET1/LCX) and somatic mutations in epigenetic regulators (e.g. DNMT3A, TET2, IDH1/2), while differences in CLL are predominantly quantitative (e.g. DNMT3A, TET2). Indeed, and as s [...]

by Shili Lin  and Hengrui Luo

Received: 23 May 2018;  Published: 10 December 2018;  doi: 10.21926/obm.genet.1804053

DNA methylation is an epigenetic change that is not only important in normal cell development, but also plays a significant role in human health and disease. Therefore, studies of DNA methylation have been actively pursued to clarify the precise role of this modification in disease etiology and its potential as a biomarker of disease. One key issue in analyzing DNA methylation data is the detection of significant differences in methylation levels between diseased individuals and healthy controls [...]

by Walter Hughes

Received: 12 September 2018;  Published: 06 December 2018;  doi: 10.21926/obm.genet.1804052

My experiences with the identification and development of the anti-Pneumocystis drugs trimethoprim-sulfamethoxazole, dapsone and atovaquone are recounted. Attention is drawn to certain often-overlooked aspects of these drugs, including their concomitant effects against infections other than Pneumocystis, matters of dosing and adverse effects. During the past four decades several million people worldwide received chemoprophylaxis and treatment with these drug [...]

by Rositsa Hristova  , Dimka Georgieva  , Albena Staynova  and Valeria Hadjidekova

Received: 14 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.genet.1804051

Background: A radiation accident occurred on 14 June 2011 in an industrial facility in Bulgaria with a cobalt source (137 TBq) that was used to sterilize equipment. Five people received doses exceeding 1Gy, which led to the development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the average acute whole-body doses estimated for the five patients ranged from 1.2 to 5.6 Gy. The purpose of this study was to evaluate induced chromosome aberrations &l [...]

by Renée J. Zwanenburg  , Trijnie Dijkhuizen  , Martijn J. de Groot  , Sheela Nampoothiri  , Marjolein H. Willemsen  , Eelco Dulfer  , Madhavan V. Thampi  , Nicole de Leeuw  and Conny M.A. van Ravenswaaij-Arts

Received: 13 July 2018;  Published: 21 November 2018;  doi: 10.21926/obm.genet.1804050

Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 1 in 20,000 newborns. Although it usually occurs de novo with a low recurrence risk, an increased recurrence risk is observed in some families. In this paper, we provide an overview of the underlying causes of increased recurrence risk in families with PMS and present a workflow aimed at identifying an increased recurrence ri [...]

by Ana Luísa Tomás  and Olga Matos

Received: 21 August 2018;  Published: 13 November 2018;  doi: 10.21926/obm.genet.1804049

Pneumocystis jirovecii pneumonia (PcP) remains a major cause of respiratory illness among immunocompromised patients. PcP is difficult to diagnose, in particular in non-HIV-infected patients, due to the lack of associated specific clinical data. Since P. jirovecii could not be cultivated for many years, microscopic visualization of cystic or trophic forms in respiratory specimens based on cytochemical or immunofluorescence staining are the standard procedure [...]

by Maddaloni Valeria  , D'Arco Daniela  , Morano Francesca  , Pepe Nicola  and Atripaldi Luigi

Received: 30 May 2018;  Published: 12 November 2018;  doi: 10.21926/obm.genet.1804048

Infectious diseases are one of the most important causes of morbidity and mortality around the world and have a substantial impact on the health of communities. These diseases are caused by pathogenic microorganisms, such as bacteria, viruses, parasites and fungi. The antibiotics that are currently available are generally considered to be safe and well-tolerated. However antimicrobial resistance is an increasingly serious concern in the treatment of infectious diseases. An understanding of epige [...]

by Ken-ichi Takayama

Received: 26 May 2018;  Published: 02 November 2018;  doi: 10.21926/obm.genet.1804047

Prostate cancer is the most common cancer among men in the world. Androgen receptor (AR), acting as a nuclear receptor, facilitates ligand-dependent transcriptional activation in the nucleus. Androgen deprivation therapy (ADT) is used for the treatment of advanced prostate cancer because androgen and AR signaling drive prostate tumor growth and anti-apoptotic function. Resistance to ADT in most tumors develops quickly; thus, AR continues to be active in relapsed tumors called castration-resistan [...]

by Kazuki Mochizuki  , Ayumi Osaki  , Yuko Inamochi  and Toshinao Goda

Received: 18 December 2017;  Published: 30 October 2018;  doi: 10.21926/obm.genet.1804046

Background: Histone modifications, including acetylation and H3 lysine 4 (K4) methylation, are thought to be associated with transcriptional activation during differentiation. Methods: mRNA and histone modifications around the sucrase-isomaltase (SI) gene in Caco-2 cells (a small intestine cell line) during differentiation were determined by qRT-PCR and chromatin immunoprecipitation, respectively. Results: Mono-, di-, and tri-methylation of histone H3K4 on the SI

by Robert F. Miller  , Laurence Huang  and Peter D. Walzer

Received: 14 September 2018;  Published: 25 October 2018;  doi: 10.21926/obm.genet.1804045

Background: Over the past decade, there has been rising interest in the interaction of Pneumocystis with the environment. This interest has arisen in part from the demonstration that environmental factors have important effects on the viability and transmission of microbes, including Pneumocystis. Environmental factors include climatological factors such as temperature, humidity, and precipitation, and air pollution factors including carbon monoxide, nitroge [...]

by Alberto Arias-Pérez  , Daniel Ramírez-Torres  , María E. Rodríguez  , Silvia Portela-Bens  , Emilio García-Suarez  , Manuel A. Merlo  , Aglaya García-Angulo  , Ismael Cross  , Thomas Liehr  and Laureana Rebordinos

Received: 31 July 2018;  Published: 24 October 2018;  doi: 10.21926/obm.genet.1804044

Background: MicroRNAs (miRNAs) are small, non-coding RNAs that play a very important role in gene expression by regulating mRNA cleavage and translation. The Senegalese sole, Solea senegalensis (Kaup 1858), is a flatfish species that shows great potential for marine aquaculture. Nevertheless, the existence of sexual dysfunction of males reared in captivity, high larval mortality, and diseases have hampered its production. The integration of sequence information with data on ch [...]

by Albena Staynova  , Ljubomira Hadjiiska  , Valeria Hadjidekova  and Rositsa Hristova

Received: 14 August 2018;  Published: 22 October 2018;  doi: 10.21926/obm.genet.1804043

Background: The purpose of study was to assess the cytogenetic effect of chronic low dose radiation exposure of nuclear power plant workers using the micronucleus centromere assay. This method allows the differentiation between centromere-positive micronuclei containing whole chromosome and centromere-negative micronuclei containing acentric fragment pointing to clastogenic action of ionizing radiation. Methods: The effect of low dose occupational exposure was estimated in 32 nuclear power plant [...]

by Adayabalam S. Balajee

Received: 26 August 2018;  Published: 19 October 2018;  doi: 10.21926/obm.genet.1804042

The technique of in situ hybridization (ISH) using radioactively labeled DNA probes was first described in the late 1960s and early 1970s. The first use of fluorescence in situ hybridization (FISH) was reported in 1980s where RNA labeled with a fluorophore at the 3’ end was used to detect specific DNA sequences. Since then, the technique has undergone various modifications for detecting single genes, chromosomes and whole genomes on various targets [...]

by Chenggong Han  , Hancong Tang  , Shuyuan Lou  , Yuan Gao  , Min Ho Cho  and Shili Lin

Received: 23 May 2018;  Published: 14 October 2018;  doi: 10.21926/obm.genet.1804041

Whole genome profiling of differential DNA methylation between diseased and normal samples has significant implications in research to understand the role of epigenetic regulations of cells. In recent years, the development of bisulfite sequencing (BS-seq)-based molecular technology has enabled the measurement of DNA methylation at a nucleotide resolution throughout the genome. Given the availability of this new type of DNA methylation data, certain features challenge traditional analytical meth [...]

by Parisa Gazerani

Received: 09 May 2018;  Published: 10 October 2018;  doi: 10.21926/obm.genet.1804040

Interactions between genetic and environmental factors in migraine are well known and can potentially determine an individual’s susceptibility to disease and responsiveness to treatment. Consequently, several epigenetic studies have been conducted to determine if and how genes are activated or inactivated in response to a diverse range of environmental migraine triggers. The results, in turn, have helped elucidate how these factors can promote or inhibit migraine progression or therapeutic respo [...]

by Stefania Policicchio  , Emma L Dempster  and Therese M Murphy

Received: 20 June 2018;  Published: 06 October 2018;  doi: 10.21926/obm.genet.1804039

Suicide is the second leading cause of death globally among young people and the tenth leading cause of death across all ages. Approximately 800,000 people die by suicide every year representing a significant global health burden. Despite this burden, the molecular pathology of suicide remains poorly understood. A number of recent studies have shown that epigenetic alterations are associated with suicidal behaviour. These epigenetic mechanisms, which act to regulate gene expression via modificat [...]

by Zhenya Tang  , Jun Gu  , Guilin Tang  and L. Jeffrey Medeiros

Received: 22 July 2018;  Published: 03 October 2018;  doi: 10.21926/obm.genet.1804038

Because of its’ simplicity, reliability and cost-effectiveness, fluorescence in situ hybridization (FISH) is a major technology that is widely applied in clinical diagnosis, especially for hematologic malignancies, even in the era of next-generation sequencing (NGS). In the Clinical Cytogenetics Laboratory at MD Anderson Cancer Center, over 15,000 FISH tests are performed each year, including approximately 1,000 BCR-ABL1 and 500 MYC FISH tests, respectively. In this chapter, we introduce the qua [...]