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) is a broad category of ailments described by low fetal weight and accompanying susceptibility to adult onset of chronic disease through fetal programming for a thrifty phenotype. This concern affects humans and animals alike, representing a large sum of healthcare costs worldwide, and a substantial loss in anim [...]

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. In this review, we will examine the current literature regarding Pneumocystis and lung diseases in the HIV and non-HIV immunocompromised populations, and the barriers to prophylaxis and treatment in these patients. Trimethoprim sulfametho [...]

by William E Sweeney  , Ameya Patil  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

Myelodysplastic syndromes (MDS) represent malignant myeloid disorders characterized by ineffective hematopoiesis, peripheral cytopenias, and an increased risk of progression to acute myeloid leukemia (AML). AML is a highly heterogeneous disease characterized by the presence of large chromosomal translocations, gene fusions as well as mutations in the genes involved in hematopoietic proliferation and differentiation resulting in the accumulation of poorly differentiated myeloid cells. Chronic lym [...]

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 mark that is not only important in normal cell development, but also plays a significant role in human health and diseases. As such, studies of DNA methylation to understand its precise role in disease etiology and its potential as disease biomarkers have been actively pursued. One key issue in analyzing DNA methylation data is detection of significant differences in methylation levels between two diseased individuals and normal controls. In recent years, molecul [...]

by Walter Hughes

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

Experiences with Pneumocystis carinii and Pneumocystis jirovecii over the past one-half century are recounted. Circumstances threatening the lives of children with fatal Pneumocystis pneumonia (PCP) in 1969 led to discovery of the anti-P. carinii activity of trimethoprim-sulfamethoxazole in the laboratory. This was followed by clinical trials that culminated in a scheme of chemoprophylaxis and treatment of PCP that has served as the standard of practice for over 40 years. Two additional drugs, [...]

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 whit Co source (137 TBq) used to sterilise equipment. Five people received doses exceed 1Gy and led to development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the averaged acute whole-body doses estimated for the five patients were from 1.2 to 5.6 Gy. The purpose of this study was to evaluate in vivo induced chromosome aberrations four months after a [...]

by Renée J. Zwanenburg  , Trijnie Dijkhuizen  , 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 20,000 newborns. It usually occurs de novo, but an unexpectedly high recurrence risk is observed in some families. Our aim is to provide an overview of the underlying causes of recurrence in families with PMS and to summarize the available detection methods used to assess increased recurrence risk. Methods: We report clinical and (cyto)genetic [...]

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 specific clinical data associated. 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 procedures to identify this fungus. Polymeras [...]

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

Epigenetics and Infectious Disease, State of the Art and Perspectives in New Generation Therapies

by Ken-ichi Takayama

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

Prostate cancer is the most commonly diagnosed cancer in men all over the world. Androgen receptor (AR) functions as a nuclear receptor to facilitate ligand-dependent transcriptional activation in the nucleus. Advanced prostate cancer is treated with androgen deprivation therapy (ADT) because androgen and AR signaling drive the prostate tumor growth and anti-apoptotic ability. Resistance to ADT in most tumors develops quickly, but AR continues to be active in relapsed tumors called castration-re [...]

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: Chromodomain-helicase-DNA-binding protein (CHD) 1 is Histone H3 lysine 4 (K4) methylation is thought to be important for the transcriptional activation of genes during differentiation. Methods: mRNA and histone modification around SI gene in a small intestinal cell line Caco-2 during the differentiation were determined by qRT-PCR and Chromatin immunoprecipitation assay, respectively. Results: Mono-, di- and tri-methylation of histone H3 K4 on the sucrase-isomaltase (SI) gene was ass [...]

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, nitrogen dioxide, sulfur dioxide, and particu [...]

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

MicroRNAs (miRNAs) are small non-coding RNAs that play a very important role in gene expression through regulation of 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 chromosomal physical locat [...]

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 the present 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 [...]

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 genome on various targets such as interphase nucleus, prematurely condense [...]

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 with certain features challenging traditional analytica [...]

by Parisa Gazerani

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

This review explores current evidence to demonstrate that epigenetic processes contribute in migraine pathogenesis. Both basic experimental data and clinical findings will be presented and significant findings will be highlighted and discussed. Current challenges and unmet needs will also be listed.

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) [1-4]. 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 t [...]