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Latest Mutation Stories

2011-12-12 23:34:13

Results may aid treatment decisions in chronic lymphocytic leukemia The most comprehensive search to date of DNA abnormalities in chronic lymphocytic leukemia (CLL) has unearthed several new altered genes that drive this common blood cancer, a finding that could potentially help doctors predict whether an individual patient's disease will progress rapidly or remain indolent for years, say scientists from Dana-Farber Cancer Institute and the Broad Institute. Using powerful...

2011-12-12 16:07:09

Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes — a condition called anophthalmia. According to the findings published in the current issue (December 2011) of Human Mutation, a child's eyes will not develop fully in the womb if the child has alterations in both copies of its STRA6 gene which is responsible for transporting vitamin A into the cells. This new discovery means that scientists can now...

2011-12-12 13:25:40

Women who inherit the cancer genes BRCA1 or BRCA2 from their paternal lineage may get a diagnosis a decade earlier than those women who carry the cancer genes from their mother and her ancestors, according to a new study by researchers at the North Shore-LIJ Health System's Monter Cancer Center in Lake Success, NY. The findings were reported on Thursday, Dec. 8, at the San Antonio Breast Cancer Symposium. Iuliana Shapira, MD, North director of cancer genetics, and her colleagues conducted...

2011-12-06 23:14:36

Reseach presented at ASCB annual meeting Reproductive and somatic aging use different molecular mechanisms that show little overlap between the types of genes required to keep oocytes healthy and the genes that generally extend life span, according to Coleen Murphy, Ph.D., of Princeton University, who described her new findings on oocyte aging at the American Society for Cell Biology Annual Meeting Dec. 6 in Denver. The different genetic pathways help explain why a woman's fertility...

2011-11-28 22:59:58

Mechanism of UV-induced DNA Dewar lesion revealed Excessive exposure to ultraviolet (UV) radiation of sunlight can result in skin damage and may even induce skin cancers. Irradiation with UV light causes mutations in the DNA, which can interfere with or even inhibit the read-out of genetic information and hence affect the cell function. The Dewar lesion is one of the major UV-induced reaction products, which can itself generate mutations. Understanding the mechanism that leads to the...

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2011-11-24 11:27:46

We all understand that genetics determine our height, but scientists want to dig in deeper and find which genes might be directly responsible. Scientists have released a study, published by Cell Press in the December issue of the American Journal of Human Genetics, suggesting that uncommon genetic deletions are associated with short stature. Researchers are focusing on genetic abnormalities, known as copy number variants (CNV), which are alterations within the chromosome that determine if...

2011-11-23 11:57:44

Researchers at Washington University School of Medicine in St. Louis have obtained new evidence that at least some persistent stuttering is caused by mutations in a gene governing not speech, but a metabolic pathway involved in recycling old cell parts. Beyond a simple association, the study provides the first evidence that mutations affecting cellular recycling centers called lysosomes actually play a role in causing some people to stutter. “This was extremely unexpected,”...

2011-11-15 21:15:41

Researchers have developed a new genetic screening tool that will aid in the investigation of possible treatments for patients with melanoma and the unique genetic mutations that may accompany the disease, according to data presented at the AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics, held Nov. 12-16, 2011. Heinz-Herbert Fiebig, M.D., Ph.D., associate professor of medical oncology at the University of Freiburg in Germany, presented data from 25...

2011-11-04 22:52:17

Quebec genealogical research provides clues to genetic consequences of human migration patterns Research published in Science today reveals that the first individuals settling on new land are more successful at passing on their genes than those who did not migrate. According to Dr. Damian Labuda at the University of Montréal and Sainte-Justine Hospital, the study suggests that population expansion creates opportunities for natural selection to act. The findings come from the...

Skin Cancer Threat May Be Less During The Morning Hours
2011-10-25 04:30:07

A new study, published in the Proceedings of the National Academy of Sciences suggests that exposure to ultraviolet (UV) rays in the morning hours may be less harmful than the sun´s ray´s in the afternoon. The study, performed on mice because they have a similar circadian rhythm to humans only opposite, found that mice exposed to UV radiation at 4 am had a 500 percent increase in the incidence of skin cancer than those exposed to UV radiation at 4pm. Since the 24 hour...