Mutation News and Research

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Contralateral prophylactic mastectomy does not reduce breast cancer recurrence

About 70 percent of women who have both breasts removed following a breast cancer diagnosis do so despite a very low risk of facing cancer in the healthy breast, new research from the University of Michigan Comprehensive Cancer Center finds.

28 Nov 2012

Researchers discover alternative mechanism for Ras protein activation

The protein Ras plays an important role in cellular growth control. Researchers have focused on the protein because mutations in its gene are found in more than 30 percent of all cancers, making it the most prevalent human oncogene.

28 Nov 2012

The Neuro clinician-scientists to further research on HIV/AIDS, Parkinson's

Clinician-scientists take a unique, integrated approach that is essential to advancing science and medicine. Problems encountered in the clinic inspire research and new findings from the labs are directly applied to patients' needs.

28 Nov 2012

ABCA3 gene associated with respiratory distress syndrome in babies

Some infants are more susceptible to potentially life-threatening breathing problems after birth, and rare, inherited DNA differences may explain why, according to research at Washington University School of Medicine in St. Louis.

28 Nov 2012

Neurofibromatosis-1 may increase risk of breast cancer in women

New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from early breast cancer screening with mammograms beginning at age 40, and manual breast exams as early as adolescence.

27 Nov 2012

Liver disease therapies: an interview with Eric Halioua, CEO of Promethera Biosciences

Liver disease is a very broad family of diseases. There are two main categories of liver disease:

27 Nov 2012

Nonfunctional MED12 gene linked to chemotherapy resistance

Research published in Cell shows that people with tumors that have a nonfunctional version of the mediator 12 gene are resistant to drugs used to treat lung and colon cancer such as gefitinib.

26 Nov 2012

New tool helps identify nonadherent HIV patients

Researchers have developed a simple tool that predicts virologic response and development of drug resistance in patients receiving HIV treatment, based on how regularly they attend their scheduled health appointments.

26 Nov 2012

First evidence of blood vessel dysfunction found in healthy young people with cystic fibrosis

The first evidence of blood vessel dysfunction has been found in a small cohort of generally healthy young people with cystic fibrosis, researchers report.

26 Nov 2012

Researchers reveal molecular mechanisms that lead to basal cell carcinoma initiation

Advanced online publication in Nature Cell Biology: Researchers at the Université libre de Bruxelles, uncover the molecular mechanisms leading to basal cell carcinoma initiation.

26 Nov 2012

Researchers trace specific paths of chandelier cells during development into the cerebral cortex

The cerebral cortex of the human brain has been called "the crowning achievement of evolution." Ironically, it is so complex that even our greatest minds and most sophisticated science are only now beginning to understand how it organizes itself in early development, and how its many cell types function together as circuits.

23 Nov 2012

Major advance in understanding how flu viruses replicate within infected cells

Scientists at The Scripps Research Institute (TSRI) have made a major advance in understanding how flu viruses replicate within infected cells. The researchers used cutting-edge molecular biology and electron-microscopy techniques to "see" one of influenza's essential protein complexes in unprecedented detail. The images generated in the study show flu virus proteins in the act of self-replication, highlighting the virus's vulnerabilities that are sure to be of interest to drug developers.

23 Nov 2012

Researchers create 3D map of rod sensory cilium architecture affected by mutation

Using a new technique called cryo-electron tomography, two research teams at Baylor College of Medicine (www.bcm.edu) have created a three-dimensional map that gives a better understanding of how the architecture of the rod sensory cilium (part of one type of photoreceptor in the eye) is changed by genetic mutation and how that affects its ability to transport proteins as part of the light-sensing process.

23 Nov 2012

TGF-betaR inhibitors may counter drug resistance in cancer patients with MED12 mutations

Cancer therapies often have short-lived benefits due to the emergence of genetic mutations that cause drug resistance. A key gene that determines resistance to a range of cancer drugs has been reported in a study published by Cell Press November 21st in the journal Cell.

22 Nov 2012

Researchers define structure of Cdc13 protein in yeast

Chromosomes - long, linear DNA molecules - are capped at their ends with special DNA structures called telomeres and an assortment of proteins, which together act as a protective sheath. Telomeres are maintained through the interactions between an enzyme, telomerase, and several accessory proteins. Researchers at The Wistar Institute have defined the structure of one of these critical proteins in yeast.

22 Nov 2012

Single dose of Medicago's vaccine could offer cross-protection against flu

Researchers recently found that a single dose of a vaccine being developed by Medicago, Inc., a publicly traded biopharmaceutical company, could protect against not only the avian influenza (H5N1) strain it was designed for, but also another H5N1 strain and a strain of a different flu subtype, called H2N2.

22 Nov 2012

Crucial link between protein synthesis and autism spectrum disorders

Researchers from McGill University and the University of Montreal have identified a crucial link between protein synthesis and autism spectrum disorders (ASD), which can bolster new therapeutic avenues.

22 Nov 2012

MicroRNAs in ovarian cancer cells promote tumor growth

Unraveling the mechanism that ovarian cancer cells use to change normal cells around them into cells that promote tumor growth has identified several new targets for treatment of this deadly disease.

22 Nov 2012

Certain mutated cells continue DNA replication process even after drug treatment

Certain mutated cells keep trying to replicate their DNA - with disastrous results - even after medications rob them of the raw materials to do so, according to new research from USC.

21 Nov 2012

Psychiatric disorders reduce patient fecundity, especially in men

Findings published in the Archives of General Psychiatry show that patients with schizophrenia, autism, and anorexia nervosa have significantly fewer children compared with the general population, suggesting these conditions are under strong selection to be removed from the population.

20 Nov 2012