A single gene variant may increase a man's risk of prostate cancer by 50 percent, according to at Mount Sinai School of Medicine in New York City. Dr. John Martignetti analyzed differences in the KLF6 gene -- a gene that fails to function properly in at least 50 percent to 60 percent of all prostate cancers -- in 3,411 blood samples from men in registries of three major U.S. cancer centers. About 17 percent of the patients with a family history of the disease and 15 percent of patients with no such history carried at lease one copy a single KLF6 variant, but only 11 percent of the controls had a copy. The study, published in the journal Cancer Research, finds individuals with the particular gene variant face an approximately 50 percent relative increased risk for developing prostate cancer. "Ultimately we plan to investigate the potential of this gene as a diagnostic tool, an indicator of a patients risk for prostate cancer, and as a potential target for new treatments," Martignetti says.
SCHIZOPHRENIA MAY BE LINKED TO SINGLE DEFECT
An imbalance in the activity of single gene whose protein plays a key role in neural development may help explain schizophrenia, a Dutch study finds. Gerard J.M. Martens of the Nijmegen Center for Molecular Life Sciences, the Netherlands, used microarrays, or so-called gene chips, to analyze the activity of thousands of genes in rats' brains. To their surprise, they discovered only a single genetic difference between the two groups of rats -- a gene called Aph-1b. This gene produces a protein that is a component of an enzyme called g-secretase, which plays a role in regulating many processes in the developing brain. The researchers, in Neuron, wrote that as a result of this lower level of Aph-1b protein, g-secretase showed reduced activity in the brains of the susceptible rats.
DIABETES, OBESITY GENETICALLY CONNECTED
Researchers at the Washington University School of Medicine in St. Louis used genetically modified mice to uncover a link between diabetes and obesity. By genetically altering production of a factor found in skeletal muscle, scientists produced mice that cannot get fat, but do develop early signs of diabetes. Reversing the alteration produced mice that can become obese but do not develop diabetes. The findings, published in Cell Metabolism, provide important insights for scientists struggling to find new ways to cope with the epidemic of U.S. obesity. "These results confirm that the links between obesity and diabetes show great promise as targets for new therapies that act as 'metabolic modulators' in muscle," said senior author Dr, Daniel P. Kelly.
AIR POLLUTION CAN CAUSE CHROMOSOMAL DAMAGE
A study of newborns in New York City found exposure of expectant mothers to air pollution altered the structure of the babies' chromosomes in the womb. The air pollutants considered in this study include emissions from cars, trucks, bus engines, residential heating, power generation and tobacco smoking. "This is the first study to show that environmental exposures to specific combustion pollutants during pregnancy can result in chromosomal abnormalities in fetal tissues," said Kenneth Olden, director of the National Institute of Environmental Health Sciences. "Finding Air pollutants can alter chromosomes in utero is troubling since other studies have validated this type of genetic alteration as a biomarker of cancer risk," the authors wrote in Cancer Epidemiology Biomarkers and Prevention.
NON INVASIVE TEST GENETIC TEST
Swiss and Boston researchers said a technique -- size-fractionation -- performed on a sample of the mother's blood can help identify at-risk pregnancies. Researchers at University Hospital in Basel, Switzerland, and Tufts-New England Medical Center in Boston have been able to identify fetal DNA molecules separate from maternal DNA as a way to determine which pregnancies may be at risk for genetic disorders. As they reported in the Journal of the American Medical Association, prenatal diagnosis of hereditary genetic disorders currently relies on invasive procedures, such as amniocentesis or chorionic villous sampling -- a prenatal test that detects genetic abnormalities, which are associated with a small but significant risk of fetal loss.
TEST HELP IN COLORECTAL CANCER DETECTION
A genetic test used with DNA testing may detect a higher number of genetic mutations in colorectal cancer patients, a U.S. study found. Approximately 70 percent of hereditary nonpolyposis colorectal cancer, or HNPCC, cases can be identified by mutations in any one of several genes involved in DNA mismatch repair -- a mechanism that corrects errors made during DNA replication, according to a paper in the Journal of the American Medical Association. Identification of a mutation may prompt genetic counseling, screening, and surveillance of relatives to reduce illness and risk of death, according to Graham Casey, of the Cleveland Clinic Lerner College of Medicine.
GENE CAUSES HEAVY METAL POISONING
University of Cincinnati researchers have identified the gene responsible for spreading the poisonous effects of the heavy metal cadmium. The findings, set to be published March 1 in the Proceedings of the National Academy of Sciences, may one day lead to the prevention of cadmium toxicity in humans. Cadmium, suspected of causing human birth defects, lung cancer and testicular cancer, is found in cigarette smoke, some shellfish and seafood, soil and some plants. Team leader Dr. Daniel W. Nebert, who studied low doses of cadmium in mice, found the gene Slc39a8 works to transport cadmium to the testes, causing tissue to die. "We suspect that cadmium at higher doses could be transported to other regions of the body via the Slc39a8 gene or another gene in this family," Nebert said.
(EDITORS: For more information on GENE contact (212) 241-9200 or firstname.lastname@example.org. For SCHIZOPHRENIA, Heidi Hardman at (617) 397-2879 or email@example.com. For DIABETES, Michael C. Purdy at (314) 286-0122 or firstname.lastname@example.org. For AIR POLLUTION, John Peterson (919) 541-7860 or email@example.com. For TEST, Melissa McPherson at (617) 636-3265. For CANCER, Lisa Murphy at (216) 444-7935. For GENE, Dama Kimmon at (513) 558-4519 or firstname.lastname@example.org)