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Latest Mutation Stories

2014-01-13 10:21:10

New Study Pinpoints Structural Effects of V44M and V44A Mutations New research, led by Rensselaer Polytechnic Institute researcher Chunyu Wang, has solved one mystery in the development of Familial Alzheimer’s Disease (FAD), a genetic variant of the disease that affects a small fraction of the Alzheimer’s population. In a paper published January 6 in the journal Nature Communications, Wang and his team follow the trail of two genetic mutations – V44M and V44A – known to cause FAD,...

2014-01-10 10:44:18

Single cell analysis captures a genomic phenomenon that fuels the complexity and diversity of living things A Ludwig Cancer Research study has uncovered a phenomenon that alters prevailing views of how the genome is expressed to make and sustain the life of mammals. Published in the journal Science, the paper helps explain why genetically identical animals are sometimes so different in their biology and appearance, and why some inherited disorders caused by a shared set of aberrant genes...

2014-01-03 15:49:03

Scientists have discovered a mutation with a built-in dilemma for dairy cattle breeders. The deleted gene sequence has a positive effect on milk yield but causes embryonic death in dairy cattle. Scientists have found a genomic deletion that affects fertility and milk yield in dairy cattle at the same time. The discovery can help explain a dilemma in dairy cattle breeding: the negative correlation between fertility and milk production. For the past many years milk yield in Scandinavian...

2013-12-20 10:32:36

As part of an international research project, a team of researchers has developed a DNA clamp that can detect mutations at the DNA level with greater efficiency than methods currently in use. Their work could facilitate rapid screening of those diseases that have a genetic basis, such as cancer, and provide new tools for more advanced nanotechnology. The results of this research is published this month in the journal ACS Nano. Toward a new generation of screening tests An increasing...

2013-12-19 12:02:17

Survey of Americans suggests a lack of understanding of genetic risk following Jolie's public announcement of her preventive double mastectomy Angelina Jolie heightened awareness about breast cancer when she announced in a New York Times op-ed that she had undergone a preventive double mastectomy. But a new study led by researchers in the University of Maryland School of Public Health and the Johns Hopkins School of Public Health reveals that widespread awareness of Jolie's story did not...

2013-12-11 12:17:50

Cancer cells have an exceptional ability to repair damage to their DNA caused during uncontrolled cell division. Scientists have now unveiled a novel piece of the puzzle of cancer cell DNA repair mechanisms that explain the mechanistic changes in the genetic code of cancer cells. These findings result from application of the cell microarray screening method developed by Juha Rantala, Senior Scientist at VTT. Research with a material impact on cancer drug development was published in Science...

2013-11-27 15:48:08

Women who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population, according to a study published in Cancer Epidemiology, Biomarkers & Prevention, a journal of the American Association for Cancer Research. Women with certain mutations in their BRCA1 or BRCA2 genes are at increased risk for breast cancer. However, if a woman who comes...

2013-11-25 16:47:29

The gene can increase levels of triglyceride fats in blood, which may contribute to risk of heart disease and other disorders Researchers at Weill Cornell Medical College have found that a genetic variation that is linked to increased levels of triglycerides -- fats in the blood associated with disorders such as heart disease, type 2 diabetes, obesity and stroke -- is far more common than previously believed and disproportionally affects people of African ancestry. Investigators say their...

2013-11-20 17:37:34

PrimPol allows cells to make copies of their DNA even when it is damaged, and prevents breaks in the chromosomes Every day, the human body produces new cells to regenerate tissues and repair those that have suffered injury. Each time this happens, the cells make copies of their DNA that they will pass on to the resulting daughter cells. This process of copying the DNA, also called replication, is very delicate, given that it can generate severe alterations in the DNA that are associated...


Word of the Day
holluschickie
  • A 'bachelor seal'; a young male seal which is prevented from mating by its herd's older males (mated bulls defending their territory).
This comes from the Russian word for 'bachelors.'
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