A study in the December issue of JAMA reports that despite the U.S. Food and Drug Administration's (FDA) recommendation that a certain type of genetic testing for the genotype CYP2C19 should be considered before prescribing clopidogrel to identify those individuals who may be less responsive to the medication, a review and analysis of earlier studies did not establish an overall significant link between the CYP2C19 genotype and cardiovascular events. About 40 million patients worldwide take Clopidogrel, an antiplatelet drug for the treatment or prevention of blood clots from thickening of inner lining of arteries (atherothrombotic events), and after percutaneous coronary revascularization, such as balloon angioplasty for example. Background information in the article states that: "Despite the overall benefit, some individuals may be less responsive to clopidogrel than others because clopidogrel is a prodrug activated by several enzymes, including CYP2C19, and common genetic variation in CYP2C19 alters enzyme activity.
Psychiatric disorders can be described on many levels, the most traditional of which are subjective descriptions of the experience of being depressed and the use of rating scales that quantify depressive symptoms. Over the past two decades, research has developed other strategies for describing the biological underpinnings of depression, including volumetric brain measurements using magnetic resonance imaging (MRI) and the patterns of gene expression in white blood cells. During this period, a great deal of research has attempted to characterize the genes that cause depression as reflected in rating scales of mood states, alterations in brain structure and function as measured by MRI, and gene expression patterns in post-mortem brain tissue from people who had depression. So what would happen if one tried to find the gene or genes that explained the "whole picture" by combining all of the different types of information that one could collect?
A new research study published in the January 2012 edition of The FASEB Journal * describes findings that could lead to a non-invasive test that would let expecting mothers know the sex of their baby as early as the first trimester. Specifically, researchers from South Korea discovered that various ratios of two enzymes (DYS14/GAPDH), which can be extracted from a pregnant mother's blood, indicate if the baby will be a boy or a girl. Such a test would be the first of its kind. "Generally, early fetal gender determination has been performed by invasive procedures such as chorionic villus sampling or amniocentesis. However, these invasive procedures still carry a one to two percent risk of miscarriage and cannot be performed until 11 weeks of gestation. Moreover, reliable determination of fetal gender using ultrasonography cannot be performed in the first trimester, because the development of external genitalia is not complete, " said Hyun Mee Ryu, M.
Wound healing requires complex interactions between cells resident at the damaged site and infiltrating immune cells. As healing progresses, the growth of new blood vessels is critical to provide nutrients and oxygen. Endothelial progenitor cells (EPCs) are cells that come from the bone marrow and are key to the production of new vessels, but the signals that direct their emigration from the bone marrow are unknown. In this paper, Toshikazu Kondo and colleagues at Wakayama Medical University, in Wakayama, Japan, demonstrate that the chemokine CCL5 helps to direct the recruitment of EPCs to sites of wounding by acting on the chemokine receptor CCR5. Mice that don't express CCR5 display delayed wound healing. These findings suggest that humans who carry mutations in CCR5 may also experience problems with wound healing, and identify the CCR5/CCL5 as a potential clinical target to promote healing.
The first-ever published whole-genome sequences of not just one, but two supercentenarians, aged more than 114 years, reveal that both unusual and common genetic phenomena contribute to the genetic background of extreme human longevity. Data from the study -- led by researchers from the Boston University Schools of Public Health and Medicine and Boston Medical Center -- will be available to researchers around the world at the NIH data repository. In the study, published Jan. 3 in the open-access journal Frontiers in Genetics, researchers at BU, the University of Florida, Gainesville, and The Scripps Research Institute report a comprehensive analysis of the whole genome sequences of a man and a woman, both of whom lived past the age of 114. Supercentenarians (age 110+ years) are very rare, occurring at a rate of one person per five million in developed countries, and there is growing evidence supporting a strong genetic influence in survival to such ages.