Latest Mutation Stories

Genetic mutations in cancer cells can lead to resistance to treatment, thereby potentially resulting in relapse. However, a new article, published April 3 in the magazine section of the online, open-access journal PLoS Biology, suggests that the converse may also happen. Steven Frank from the University of California, Irvine, and Marsha Rosner from the University of Chicago, propose that it may often be the case that a few cells become resistant before any genetic change, and then later...

Cardiomyopathy comprises a deterioration of the heart muscle that affects the organ's ability to efficiently pump blood through the body. Previously researchers have tied forms of the disease to the alternative splicing of titin, a giant protein that determines the structure and biomechanical properties of the heart, but the molecular mechanism remained unknown. Professor Michael Gotthardt and Professor Norbert Hübner of the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch,...

A second mutation found in the tumors of patients with BRAF-mutated metastatic melanoma does not contribute to resistance to BRAF inhibitor drugs, a finding that runs counter to what scientists expected to be true. The study by researchers at UCLA's Jonsson Comprehensive Cancer Center found that patients with the mutations in both the MEK1 and BRAF genes respond as well to the inhibitors as patients with the BRAF mutation alone. Another surprising finding is that the MEK1 and BRAF...

CARLSBAD, Calif., April 2, 2012 /PRNewswire/ -- Life Technologies Corporation (NASDAQ: LIFE) today announced the expansion to its TaqMan(®) Mutation Detection Assays -- highly sensitive and novel molecular analysis research tools designed to detect an additional 241 of the most common mutations in 21 cancer genes. The TaqMan(®) Mutation Detection Assays can screen for extremely minute levels of mutations in heterogenous samples and achieve such results in three hours with...

For more than a century, Vincent Van Gogh's series of paintings depicting overly-bushy sunflowers were thought to be the result of his alleged mental illness at work, but now could actually be realistic impressions of a genetic mutation seen in some strains of the flowers, according to a new study. Most typical sunflowers have a brown, seed-filled middle and a single ring of yellow petals. But some seem overgrown with double rows of petals -- like the "Teddy Bear" variety -- and others...

In addition to being among his most vibrant and celebrated works, Vincent van Gogh's series of sunflower paintings also depict a mutation whose genetic basis has, until now, been a mystery In addition to being among his most vibrant and celebrated works, Vincent van Gogh's series of sunflower paintings also depict a mutation whose genetic basis has, until now, been a mystery. In a study published in PLoS Genetics, a team of University of Georgia scientists reveal the mutation behind the...

Mutations in a gene called XRCC2 cause increased breast cancer risk, according to a study published today in the American Journal of Human Genetics. The study looked at families that have a history of the disease but do not have mutations in the currently known breast cancer susceptibility genes. Sean Tavtigian, Ph.D., a Huntsman Cancer Institute (HCI) investigator and associate professor in the Department of Oncological Sciences at the University of Utah (U of U) is one of three...

A collaboration by an international consortium of researchers led by scientists at Baylor College of Medicine and the Montreal Neurological Institute of McGill University have linked the discovery of a mutation in a mitochondrial gene in fruit flies that causes the loss of neurologic function (a neurodegenerative set of characteristics or phenotype) and a progressive recessively inherited ataxia or neurodegenerative disorder in humans. A report in the online, open access journal PLoS...

HudsonAlpha researcher part of international team When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic components such as irritable bowel syndrome. Researchers in Norway, India, and at the HudsonAlpha Institute for Biotechnology have identified one heritable DNA mutation that leads to chronic diarrhea and bowel...

A collaborative study by scientists at Baylor College of Medicine (BCM) and the Montreal Neurological Institute of McGill University, and published March 20 in the online, open access journal PLoS Biology, has discovered that mutations in the same gene that encodes part of the vital machinery of the mitochondrion can cause neurodegenerative disorders in both fruit flies and humans. Vafa Bayat in Dr. Hugo Bellen's lab at BCM, examined a series of mutant fruit flies for defects leading to...