Genetics

A novel enzyme may play a major role in anencephaly, offering hope for a genetic test or even therapy for the rare fatal birth defect in which the brain fails to develop, according to a study from researchers at the University of Illinois at Chicago College of Medicine. The study appears in the October issue of the journal of Molecular Endocrinology. In the U.S., 1,000 to 2,000 children are born with anencephaly each year.

Portuguese, Swiss and French researchers show, for the first time, that is possible to inhibit, in a living organism, the mutated copies of a gene without affecting any existing normal copies of the same gene. The research, to appear in the 8th of October edition of the journal PLoS One, describes how scientists successfully used the approach in rats to reverse the symptoms of Machado Joseph Disease (MJD), an untreatable and potentially fatal neurodegenerative disease.

Letters are warped, syllables left out about four percent of the German population are dyslexics. Scientists seek to spot responsible genes and try to develop a genetic screening test to support affected children at an earlier age. Scool? Skuul? Or perhaps shcool? The beginning is a delicate time especially in reading and writing. Twisted letters or other beginner´s mistakes disappear quite fast as learning progresses.

A Flash Eurobarometer study, presented by the European Commission today, reveals that European citizens have a generally negative perception of animal cloning for food production. The study was carried out to assess citizens' attitudes towards animal cloning. It indicates firstly, that the vast majority of citizens has a good degree of knowledge of what is animal cloning ( eight out of 10 stated correctly that "cloning is making an identical copy of an existing animal).

Pacific Grove (CA)/Leipzig. Researchers have for the first time identified complete gene sequences and function of two proteins in mussels that play a key defensive role against environmental toxicants.

A new gene that may confer susceptibility to pulmonary tuberculosis has been identified by Genome Institute of Singapore (GIS) researchers and their collaborators in The Netherlands, Indonesia, United Kingdom, and the Russian Federation.

Scientists have identified some of the elusive downstream molecules that play a critical role in the development and progression of familial breast cancer. The research, published by Cell Press in the October 10th issue of the journal Molecular Cell, also identifies a compound found in grapes and red wine as an excellent candidate for treatment of some forms of breast cancer.

Scientists have gained insight into the complex mechanisms that control bacterial pathogenesis and, as a result, have developed new theories about how independent mechanisms may have become intertwined during evolution.

For the tenth year, Indiana University School of Medicine and Riley Hospital for Children will host the Molecular Medicine in Action program for Indiana high-school students. The deadline for submitting applications is Friday, Oct. 31.

A study involving an Indian population has led to an important discovery in schizophrenia genetics. Scientists at the Schizophrenia Research Foundation in Chennai, India, and UQ's Queensland Centre for Mental Health Research found statistically significant evidence for involvement of a chromosome 1 region in schizophrenia.

A consortium of health care, technology and research leaders have joined forces in a first-of-its-kind research study to assess the behavioral impact of personal genetic testing on people who choose to receive such screenings to identify their potential risk for developing certain diseases.

Scientists from the Universities of Bath and Exeter have developed a rapid new way of checking for toxic genes in disease-causing bacteria which infect insects and humans. Their findings could in the future lead to new vaccines and anti-bacterial drugs. They studied a bacterium called Photorhabdus asymbiotica, which normally infects and kills insects, but which can also cause an unpleasant infection in humans.

Age-related macular degeneration (AMD) has been associated with a new gene, according to an article released on October 7, 2008 in The Lancet. Macular degeneration is characterized by visual impairment due to damage to the retina. In developed countries, AMD is the most common type of vision loss.

Background: The organic solute transporter (OSTalpha-OSTbeta) is a heteromeric transporter that is expressed on the basolateral membrane of epithelium in intestine, kidney, liver, testis and adrenal gland and facilitates efflux of bile acids and other steroid solutes. Both subunits are required for plasma membrane localization of the functional transporter but it is unclear how and where the subunits interact and whether glycosylation is required for functional activity. We sought to examine these questions for the human OSTalpha-OSTbeta transporter using the human hepatoma cell line, HepG2, and COS7 cells transfected with constructs of human OSTalpha-FLAG and OSTbeta-Myc. Results: Tunicamycin treatment demonstrated that human OSTalpha is glycosylated. In COS7 cells Western blotting identified the unglycosylated form (~31 kD), the core precursor form (~35 kD), and the mature, complex glycoprotein (~40 kD). Immunofluorescence of both cells indicated that, in the presence of OSTbeta, the alpha subunit could still be expressed on the plasma membrane after tunicamycin treatment. Furthermore, the functional uptake of 3H-estrone sulfate was unchanged in the absence of N-glycosylation. Co-immunoprecipitation indicates that the immature form of OSTalpha interact with OSTbeta. However, immunoprecipitation of OSTbeta using an anti-Myc antibody did not co-precipitate the mature, complex glycosylated form of OSTalpha, suggesting that the primary interaction occurs early in the biosynthetic pathway and may be transient. Conclusions: In conclusion, human OSTalpha is a glycoprotein that requires interaction with OSTbeta to reach the plasma membrane. However, glycosylation of OSTalpha is not necessary for interaction with the beta subunit or for membrane localization or function of the heteromeric transporter.

Researchers at Signature Genomic Laboratories recently reported two individuals with microscopic losses of DNA from the long arm of chromosome 16 and suggested this deletion represents a previously unappreciated syndrome.

deCODE genetics (Nasdaq:DCGN) has announced the launch of deCODE BreastCancer™, a new tool for assessing risk of the common forms of breast cancer. For the first time, a woman concerned about breast cancer can speak with her physician about a genetic test to better understand her lifetime risk of developing the common forms of the disease.

An Icelandic biotechnology company on Wednesday will begin offering a new genetic test to assess a woman's risk for the most common forms of breast cancer, reigniting concern about the proliferation of unregulated genetic tests, the Washington Post reports. FDA does not regulate screening tests when they are conducted by the labs that offer them.

A family of cancer-fighting molecules helps blood stem cells in mice decide when and how to divide, say researchers at the Stanford University School of Medicine. Blocking the molecules' function spurs the normally resting cells to begin proliferating strangely - making too much of one kind of cell and not enough of another. Many types of human blood cancers involve a similar disruption in the expression of that same family of molecules.

Researchers are still discovering new characteristics of Hodgkin lymphoma, a common form of cancer of the lymphatic system. The malignant cells are derived from white blood cells (B cells), but have lost a considerable part of the B cell-specific gene expression pattern. The phenotype and the characteristics of Hodgkin lymphoma cells are therefore unique. Björn Lamprecht and Dr.

The 3-D structure of the virus, known as Seneca Valley Virus-001, reveals that it is unlike any other known member of the Picornaviridae viral family, and confirms its recent designation as a separate genus "Senecavirus." The new study reveals that the virus's outer protein shell looks like a craggy golf ball - one with uneven divets and raised spikes - and the RNA strand beneath it is arranged in a round mesh rather like a whiffleball.