Popular Mutations News and Current Events

Popular Mutations News and Current Events, Mutations News Articles.
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Not silent at all
The so-called 'silent' or 'synonymous' genetic alterations do not result in altered proteins. But they can nevertheless influence numerous functions of the cell and thus also disease processes. Scientists from the German Cancer Consortium, German Cancer Research Center, and the University of Freiburg have now created a comprehensive database of all synonymous mutations ever found in cancer. This is a 'reference book' that provides cancer researchers with all available information on each of these supposedly 'silent' mutations at a glance. (2019-06-12)

Maintenance therapy with rucaparib shows clinical responses in a subgroup of patient with pancreatic cancer
Maintenance treatment with the PARP inhibitor rucaparib (Rubraca) was well tolerated and provided clinical responses among patients with advanced BRCA- or PALB2-mutated pancreatic cancer sensitive to platinum-based chemotherapy, according to results from an interim analysis of an ongoing phase II clinical trial presented at the AACR Annual Meeting 2019, March 29-April 3. (2019-04-02)

Electrons use DNA like a wire for signaling DNA replication
A Caltech-led study has shown that the electrical wire-like behavior of DNA is involved in the molecule's replication. (2017-02-23)

Purest yet liver-like cells generated from induced pluripotent stem cells
A team of researchers from the Medical University of South Carolina and elsewhere has found a better way to purify liver cells made from induced pluripotent stem cells. This new methodology could facilitate progress toward an important clinical goal: the treatment of patients with disease-causing mutations in their livers by transplant of unmutated liver cells derived from their own stem cells. (2016-08-29)

Bacteria take a deadly risk to survive
Bacteria need mutations -- changes in their DNA code -- to survive under difficult circumstances. When necessary, they can even mutate at different speeds. This is shown in a recent study by the Centre of Microbial and Plant Genetics at KU Leuven (University of Leuven), Belgium. The findings open up various new avenues for research, ranging from more efficient biofuel production methods to a better treatment for bacterial infections and cancer. (2017-05-02)

Vitamin K2: New hope for Parkinson's patients?
Neuroscientist Patrik Verstreken, associated with VIB and KU Leuven, succeeded in undoing the effect of one of the genetic defects that leads to Parkinson's using vitamin K2. His discovery gives hope to Parkinson's patients. This research was done in collaboration with colleagues from Northern Illinois University and will be published this evening on the website of the authoritative journal Science. (2012-05-11)

Mutations in bone cells can drive leukemia in neighboring stem cells
DNA mutations in bone cells that support blood development can drive leukemia formation in nearby blood stem cells. This neighbor cell effect was observed in a mouse model of Noonan syndrome. In mice, drugs can stop the effect and potentially could combat leukemia progression/recurrence. (2016-10-26)

Autism often associated with multiple new mutations
Most autism cases are in families with no previous history of the disorder. New mutations, that occur in offspring but not in their parents, might play a role. These mutations have now been found, not just in protein-coding genome areas, but also in regulatory regions. Many are in areas that influence gene activity in the brain's striatum, which coordinates motivation, planning and other aspects of cognition. (2017-10-12)

Novel experiment documents evolution of genome in near-real time
UCSD bioengineers report in the November issue of Nature Genetics rapid evolutionary changes in a bacterial genome, observed in near-real time over a few days. Scientists have previously published static (2006-11-05)

Novel genomics tool enables more accurate identification of rare mutations in cancer cells
A new computational method developed by researchers at the New York Genome Center (NYGC) allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches. The technique, reported in today's Communications Biology from Nature Research publishing, is called Lancet and represents a major advance in the identification of tumor cell mutations, a process known as somatic variant calling. (2018-03-22)

UCI researchers uncover cancer cell vulnerabilities; may lead to better cancer therapies
A new University of California, Irvine-led study reveals a protein responsible for genetic changes resulting in a variety of cancers, may also be the key to more effective, targeted cancer therapy. (2020-06-12)

Food allergy is linked to skin exposure and genetics
Infant and childhood food allergy has now been linked to a mix of environmental and genetic factors that must coexist to trigger the allergy, reports a new study. Those factors include genetics that alter skin absorbency, use of infant cleansing wipes that leave soap on the skin, skin exposure to allergens in dust and skin exposure to food from those providing infant care. The good news is factors leading to food allergy can be modified in the home environment. (2018-04-06)

Cells rank genes by importance to protect them, according to new research
Researchers at the University of Oxford have discovered that a cellular mechanism preferentially protects plant genes from the damaging effects of mutation. A new study, carried out in the Department of Plant Sciences, together with international colleagues, has shown for the first time that DNA Mismatch Repair (MMR), which corrects mutations that arise during the replication of the genome during cell division, is targeted to particular regions of the genome, and preferentially repairs genes. (2018-01-05)

Combination therapy more effective than chemotherapy alone for many newly diagnosed leukemia patients
A Phase II study pairing azacitidine with enasidenib boosts complete remission in patients with AML with IDH2 mutations. (2019-12-09)

PARP inhibitor improves progression-free survival in patients with advanced breast cancers and BRCA
In a randomized, Phase III trial led by researchers at the University of Texas MD Anderson Cancer Center, the PARP inhibitor talazoparib extended progression-free survival (PFS) and improved quality-of-life measures over available chemotherapies for patients with metastatic HER2-negative breast cancer and mutations in the BRCA1/2 genes. (2017-12-08)

Digging deep into distinctly different DNA
A University of Queensland discovery has deepened our understanding of the genetic mutations that arise in different tissues, and how these are inherited. Researchers from UQ's Queensland Brain Institute, led by Dr. Steven Zuryn, found the rates of genetic mutations in mitochondrial DNA vary across differing tissue types, with the highest rate occurring in reproductive cells. (2018-01-22)

New form of autism found
Autism spectrum disorders (ASD) affect around one percent of the world's population and are characterized by a range of difficulties in social interaction and communication. In a new study published in Cell today, a team of researchers led by Gaia Novarino, Professor at the Institute of Science and Technology Austria (IST Austria), has identified a new genetic cause of ASD. (2016-12-01)

How the malarial parasite is evading our arsenal of drugs
A team of researchers has identified numerous mutations that allow the malaria-causing parasite Plasmodium falciparum to become resistant to treatment. Knowing the identity of genes that impart multidrug resistance is important for the design of new drugs, and for understanding how existing therapeutics can lose their efficacy in clinical settings. (2018-01-11)

Slowing metabolic rate can prevent detrimental effects of genetic mutations
In a new Northwestern University study, researchers slowed mutant fruit flies' metabolic rates by 50%, and the expected detrimental effects of many mutations never manifested. After experimentally testing fruit flies' many different genetic mutations, the researchers found the same result each time. (2019-07-25)

Genetic gene mutations: Opening new therapeutic avenues in metastatic prostate cancer
International study shows the prognostic and predictive value of DNA-repair gene mutations in more precisely selecting standard therapies for the treatment of metastatic prostate cancer. (2018-02-08)

Solution to 50-year-old mystery could lead to gene therapy for common blood disorders
In a landmark study that could lead to new therapies for sickle cell anemia and other blood disorders, UNSW Sydney-led researchers have used CRISPR gene editing to introduce beneficial natural mutations into blood cells to boost their production of fetal hemoglobin. The research solves a 50-year-old mystery about how these mutations -- which are naturally carried by a small percentage of people -- operate and alter the expression of human genes. (2018-04-02)

New disease gene will lead to better screening for pediatric heart disease
Cardiomyopathy, or a deterioration of the ability of the heart muscle to contract, generally leads to progressive heart failure. It is frequently inherited, and, because approximately 40 percent of children born with it are likely to die within five years of diagnosis, being able to identify its genetic basis is particularly important. Now, an international team of researchers has identified a new disease gene which is implicated in the development of severe pediatric cardiomyopathies. (2016-05-23)

Virus found to adapt through newly discovered path of evolution
Biologists have discovered evidence for a new path of evolution, and with it a deeper understanding of how quickly organisms such as viruses can adapt to their environment. Publishing in the journal Science, the researchers say their findings, which address longstanding mysteries of how genes acquire new functions and how mutations arise to ease transmission from one host to another, could be applied to investigations of viral diseases such as Zika, Ebola and bird flu. (2018-03-29)

First study of neoadjuvant use of PARP inhibitor shows promise for early-stage, BRCA+ breast cancer patients
In a small Phase II study of early-stage breast cancer patients with BRCA1/2 mutations, researchers at The University of Texas MD Anderson Cancer Center found that more than half of the women who took the PARP inhibitor talazoparib once daily prior to surgery had no evidence of disease at the time of surgery. If further validated in larger, confirmatory trials, the oral medication could replace chemotherapy for these patients. (2018-06-04)

Distinct human mutations can alter the effect of medicine
About one third of all medicine binds to the same type of receptor in the human body. An estimated 3 percent of the population have receptors of this type that are so genetically different that they are predisposed to altered, ineffective or adverse responses to medicine, a new study from the University of Copenhagen and the MRC Laboratory of Molecular Biology in Cambridge shows. (2017-12-15)

A cluster of mutations in neurofibromatosis is important risk factor for severe symptoms
Research led by Ludwine Messiaen shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1. Such information is vital to help guide clinical management and genetic counseling in this complex disease, and it shows a potential need for increased disease surveillance of patients with missense mutations in that cluster -- specifically, codons 844 to 848. (2017-12-28)

For women with genetic risk, bi-annual MRI beats mammograms
Intensive surveillance including a dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) exam every six months was far more effective in detecting breast cancer in younger women with a high-risk genetic profile than an annual mammogram. DCE-MRI every six months performed well for early detection of invasive breast cancer in high-risk women. (2017-12-08)

First 'non-gene' mutations behind neurodevelopmental disorders discovered
In the largest study of its kind, genetic changes causing neurodevelopmental disorders have been discovered by scientists at the Wellcome Sanger Institute and their collaborators. The study of almost 8,000 families, published today in Nature, found for the first time that mutations outside of genes can cause rare developmental disorders of the central nervous system. The study is a positive step towards providing an explanation for children with undiagnosed neurodevelopmental disorders. (2018-03-21)

Research test identifies BRCA2 gene mutations that lead to breast, ovarian cancers
A new test developed by researchers at Mayo Clinic shows which mutations in the BRCA2 gene make women susceptible to developing breast or ovarian cancers. The research behind the test was published today in the American Journal of Human Genetics. (2018-01-25)

Liquid biopsy results differed substantially between 2 providers
Two Johns Hopkins prostate cancer researchers found significant disparities when they submitted identical patient samples to two different commercial liquid biopsy providers. Liquid biopsy is a new and noninvasive alternative to tumor tissue sequencing, and it is intended to specifically detect and sequence tumor DNA circulating in patients' blood. The results are used to help guide doctors to tailor the best treatment for patients at each point of their disease. (2017-12-14)

Anxiety-depressive disorder changes brain genes activity
Russian neuroscientists discovered that anxiety-depressive disorder in mice is associated with impaired energy metabolism in the brain. The obtained data provides a fresh look at the depression development mechanism and other psycho-emotional diseases formation. The results of the study supported by Russian Science Foundation are published in the BMC Neuroscience. (2019-01-07)

Researchers recommend specific diets for preventing colorectal cancer in high-risk groups
Researchers at the Spanish National Cancer Research Centre (CNIO) have discovered that the amount of protein in our diet may be an important factor in the prevention of colorectal cancer in different risk groups. People already suffering from inflammatory bowel disease could benefit from a high-protein diet; however, in contrast, low protein consumption may be the best option for those people who have a genetic predisposition to develop colon cancer. (2017-12-21)

Droplet Digital PCR enables precise detection and quantification of a promoter mutation prevalent in many cancer types
Research from NYU Langone Medical Center and its Perlmutter Cancer Center along with Bio-Rad's Digital Biology Group demonstrates how two new ddPCR-based assays can specifically detect and quantify mutations linked to many cancer types. (2018-10-30)

Study implicates potassium channel mutations in neurodegeneration and mental retardation
For the first time, researchers have linked mutations in a gene that regulates how potassium enters cells to a neurodegenerative disease and to another disorder that causes mental retardation and coordination problems. The findings may lead to new ways of treating a broad range of disorders, including Alzheimer's and Parkinson's diseases. (2006-02-26)

Lymphoma overrides a key protein's quadruple locks
Protein chemists at Johns Hopkins report they are closer to explaining why certain blood cancers are able to crack a molecular security system and run rampant. (2016-03-22)

Transfer learning meets livestock genomics
Researchers at Peter the Great St. Petersburg Polytechnic University (SPbPU) have developed a new computational method that predicts harmful mutations in mammalian species. As more and more livestock producers are using genetic tests to improve their herds, this method will help to optimize and guide the animal breeding programmes, as well as increase the profitability and yields of livestock. (2018-04-13)

On the other hand, the immune system can also cause cancer
CU Cancer Center study describes how immune response designed to scramble viral DNA can scramble human DNA as well, sometimes in ways that cause cancer. (2017-08-23)

Mutation links bipolar disorder to mitochondrial disease
Mutations in the gene ANT1 may confer a risk for bipolar disorder through a complex interplay between serotonin and mitochondrial signaling in the brain. These two pathways have been separately implicated in bipolar disorder, but the link between levels of the neurotransmitter serotonin and mitochondrial dysfunction had not been established. Researchers at the RIKEN Center for Brain Science (CBS) in Japan now report that mitochondrial dysfunction affects the activity of serotonergic neurons in mice with mutations of ANT1. (2018-06-11)

Heavy metal link to mutations, low growth and fertility among crustaceans in Sydney Harbor tributary
Heavy metal pollutants are linked to genetic mutations, stunted growth and declining fertility among small crustaceans in the Parramatta River, the main tributary of Sydney Harbor, new research shows. The finding adds to mounting evidence that toxic sediments and seaweeds in Sydney Harbor are a deadly diet for many sea creatures. (2008-08-25)

Certain flu virus mutations may compensate for fitness costs of other mutations
Seasonal flu viruses continually undergo mutations that help them evade the human immune system, but some of these mutations can reduce a virus's potency. According to new research published in PLOS Pathogens, certain mutations in the genome of influenza A may help counteract the weakening effects of other mutations. (2018-01-18)

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