Genetics & epigenetics

Sapropterin has recently been approved to treat hyperphenylalaninaemia in patients over 4 year-old with tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU) and in children and adults with BH4 deficiency. The effectiveness of this treatment in BH4-responsive PKU patients has already been demonstrated in randomized, double-blind trials; moreover, Sapropterin appears well tolerated in PKU...

Skewed sex ratios indicative of a greater preponderance of males over females (approximating 4:1) has perhaps been the most constant collective finding in autism spectrum conditions. More recent investigations have indicated a potential change to traditional estimates of gender ratios. We undertook analysis to calculate contemporaneous gender ratios based on...

Gene fusion is a hallmark of cancer development with the mechanisms underlying their genesis emerging. The Staege and Max paper together with another recent paper have provided a comprehensive first view on current TET-ETS translocation studies. This significance, the trigering of gene fusion and beyond will be discussed in this...

Exposure to tobacco smoke is an established risk factor for lung cancer, although a possible role for genetic susceptibility in the development of lung cancer has been inferred from familial clustering of the disease and segregation analysis. Findings of familial aggregation and statistical evidence for a major susceptibility gene have...

Epigenetics is the study of the transmission of cell memory through mitosis or meiosis that is not based on the DNA sequence. At the molecular level the epigenetic memory of a cell is embedded in DNA methylation, histone post-translational modifications, RNA interference and histone isoform variation. There is a tight...

Glycogen synthase kinase 3β (GSK3β) was discovered as a major factor in glucose homeostasis. GSK3β is a pivotal regulator of glycogen synthesis by altering the activity of glycogen synthase and perturbation in this process have been linked to at least some sub-entities of insulin resistance and diabetes mellitus. However, GSK3β...

Efficient nutrient assimilation into useful animal-derived products is the ultimate requirement for successful animal production. Infection in young growing animals can decrease energy and nutrient use required for growth rate by redirection of nutrients to support immune defense processes. Bovine leukemia virus (BLV) infection is prevalent in several regions of...

No abstract.

In the adult population, glioblastoma multiforme is one of the most common primary brain tumors encountered. Unfortunately, this highly malignant tumor represents over 50% of all types of primary central nervous system gliomas. The vast majority of GBMs develops quite rapidly without clinical, radiological, or morphologic evidence of a less...

Hisao OsadaDepartment of Maternal-fetal Medicine, Chiba University Hospital.AbstractA close relationship between size at birth and occurrence of common adult diseases has been reported. As an explanation of this relationship, it has been hypothesized that the thrifty genotypes cause changes in growth efficiency during fetal period and diseases in later life....

Background: Pulmonary arterial pressure (PAP) varies considerably in heart failure (HF) despite similar degrees of left ventricular (LV) dysfunction. Bradykinin alters vascular tone and common variations in the kinin B2 receptor (BDKRB2) gene exists. We hypothesized that genetic variation in this receptor would influence PAP in HF. Methods: 131...

Kara L. Kuntz-Melcavage, Willard M. Freeman and Kent E. Vrana Department of Pharmacology, Pennsylvania State University College of Medicine, R130, 500 University Drive, Hershey, PA 17033, U.S.A. Abstract Drug abuse is a condition that impacts not only the individual drug user, but society as a whole. Although...

Stefan Stefanov1, James Lautenberger2 and Bert Gold1 1Human Genetics Section, Laboratory of Experimental Immunology, National Cancer Institute at Frederick, Frederick, MD 21702. 2Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, MD 21702. Abstract We developed an efficient pipeline to analyze genome-wide association study single nucleotide...

Introductory Editorial by Dr Christian Bronner, CNRS UMR7175, University Louis Pasteur, Faculty of Pharmacy, Illkirch, France.

Mauro Geller1,2, Spyros G.E. Mezitis3, Fabio Pereira Nunes4, Marcia G. Ribeiro2, Alexandra Prufer de Q.C. Araújo2, Marcello D. Bronstein5, Rodrigo Siqueira-Batista1, Andréia Patrícia Gomes1, Lisa Oliveira6 and Karin Soares Gonçalves Cunha1 1Teresópolis Medical School (UNIFESO)—Teresópolis, Rio de Janeiro, Brazil. 2Federal University of Rio de Janeiro—Rio de Janeiro, Rio de...

Introductory Editorial by Dr Shiva M. Singh, Professor Molecular Genetics and Distinguished University Professor, The University of Western Ontario, London, Ontario and Canada N6A 5B7