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Popular Mutations News and Current Events, Mutations News Articles.
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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)

Microbial 'cheaters' help scientists ID 'social' genes
The first genome-wide search for genes governing social behavior has found that even the simplest social creatures -- the amoebae Dictyostelium discoideum -- have more than 100 genes that help regulate cooperative behavior. The study by scientists at Rice University and Baylor College of Medicine was published online today by Nature. It marks one of the first large-scale attempts to combine evolutionary biology with genomics in a systematic search for genes tied to social behavior. (2008-02-13)

Mutation explains why some people are more vulnerable to viral brain infection
Scientists identified mutations in a single gene that impair immunity to viruses in a region of the brain called the brain stem. (2018-02-22)

Number and timing of pregnancies influence breast cancer risk for women with BRCA1 or BRCA2 mutation
Researchers confirm the lower risk of breast cancer from multiple pregnancies and from breast feeding seen in average risk women extends to those at the highest risk of breast cancer, according to the largest prospective study of BRCA1 and BRCA2 mutations carriers to date. Women with BRCA1 mutations who had two, three or four or more full-term pregnancies were at 21 percent, 30 percent, and 50 percent decrease risk of breast cancer compared to women with a single full-term pregnancy. (2019-03-08)

Sorting out risk genes for brain development disorders
Gene discovery research is uncovering similarities and differences underlying a variety of disorders affecting the developing brain, including autism, attention deficits, tics, intellectual impairments, developmental delays and language difficulties. Researchers found some genes are more closely associated with autism and others with intellectual impairments, but many times there is overlap, indicating some genes pose broader risks. Certain genes were detected only in males with high-functioning autism. (2017-02-22)

Andalusian experts discover new procedures for DNA stability
In eukaryotic cells the proximity of the genes to the nuclear pores, which are found in the nuclear membrane, contributes to maintaining the integrity of the genome. This is due to the fact that the anchoring of DNA to the pore during transcription avoids the formation of DNA-RNA hybrids, which are a natural source of DNA breaks and genome instability. (2017-11-16)

Harnessing the power of genomic sequencing augments diagnosis and treatment of lymphoid cancer
A new study published in The Journal of Molecular Diagnostics has established that hybrid-capture sequencing is the method of choice for sequencing 'actionable' gene mutations across the most common forms of lymphoid cancer. Due to its applicability in routinely acquired formalin-fixed, paraffin-embedded tissues, this assay can be implemented by clinical laboratories into routine diagnostic workflows. It reliably identifies potentially actionable gene mutations in 91 percent of patients, bringing the benefits of precision diagnosis and individualized therapy to patients with lymphoid cancer. (2018-02-08)

Study sheds new light on mechanism of breast cancer treatment resistance
A study by researchers at Dana-Farber Cancer Institute has illuminated a specific mechanism by which estrogen receptor-positive (ER+) breast cancers can become resistant to standard therapies and metastasize. (2018-02-12)

TAU and Ichilov researchers develop treatment for familial adenomatous polyposis
Researchers from Tel Aviv University and Tel Aviv Sourasky Medical Center (Ichilov Hospital) have developed an innovative drug treatment for familial adenomatous polyposis (FAP), a rare, inherited condition that affects adolescents and young adults and often leads to colorectal cancer. (2019-10-03)

Historical genomes reveal recent changes in genetic health of eastern gorillas
The critically endangered Grauer's gorilla has recently lost genetic diversity and has experienced an increase in harmful mutations. These conclusions were reached by an international team of researchers who sequenced eleven genomes from eastern gorilla specimens collected up to 100 years ago, and compared these with genomes from present-day individuals. The results are now published in Current Biology. (2018-12-27)

Study paves way for new therapies in fight against calcium disorders
A study led by researchers at Georgia State University provides new insights into the molecular basis of human diseases resulting from mutations in the calcium-sensing receptor, a protein found in cell membranes. (2016-05-31)

Using rank order to identify complex genetic interactions
Applying new math, Kristina Crona, an American University assistant professor who researches in the area of mathematical biology, and her colleagues show how ranking pathogen mutants can help scientists understand how mutants evolve to resist drug treatments. This line of research could have implications for the treatment of diseases that can resist drug treatments, such as HIV and malaria. (2018-01-03)

Risk of breast cancer mutations underestimated for Asian women, Stanford study shows
Oncologist Allison Kurian, M.D., and her colleagues at the Stanford University School of Medicine were perplexed. Computer models designed to identify women who might have dangerous genetic mutations that increase their risk of breast and ovarian cancer worked well for white women. But they seemed to be less reliable for another ethnic group. (2008-09-11)

Research discovers how some cancers resist treatment
An international team of researchers led by Lucio Miele, M.D., Ph.D., Professor and Chair of Genetics at LSU Health New Orleans School of Medicine, and Justin Stebbing, BM BCh MA, Ph.D, Professor of Cancer Medicine and Medical Oncology at Imperial College of Medicine in London, has found new genetic mutations that promote the survival of cancer cells. The research also provided a clearer understanding of how some cancer cells are able to resist treatment. (2018-03-23)

Large reservoir of mitochondrial DNA mutations identified in humans
Clinical analysis of blood samples from almost 3,000 infants showed that at least 1 in 200 individuals in the general public harbor mitochondrial DNA mutations that may lead to disease. (2008-08-11)

NIH researchers crack mystery behind rare bone disorder
Researchers at the National Institutes of Health worked with 15 patients from around the world to uncover a genetic basis of 'dripping candle wax' bone disease. The rare disorder, known as melorheostosis, causes excess bone formation that resembles dripping candle wax on x-rays. The results, appearing in Nature Communications, offer potential treatment targets for this rare disease, provide important clues about bone development, and may lead to insights about fracture healing and osteoporosis. (2018-04-11)

Two new mechanisms for herbicide resistance found in Palmer amaranth
Palmer amaranth is a nightmare of a weed, causing yield losses up to 80 percent in severely infested soybean fields. It scoffs at farmers' attempts at control, having evolved resistance to six classes of herbicides since its discovery in the United States 100 years ago. And now, scientists have discovered it has two new tricks up its sleeve. (2017-04-04)

Family members without inherited mutation have increased risk of melanoma
In families who carry certain inherited mutations that increase the risk for melanoma, members who do not carry the mutation also have an increased risk of melanoma, a study from Karolinska Institutet published in Genetics in Medicine reports. The phenomenon, which is called phenocopy, could result from other shared risk-enhancing genes or environmental factors within the families. (2017-12-08)

Stem cell study may result in stronger muscles in old age
As we grow older, our muscular function declines. A new study by researchers at Karolinska Institutet in Sweden shows how an unexpectedly high number of mutations in the stem cells of muscles impair cell regeneration. This discovery may result in new medication to build stronger muscles even when in old age. The study is published in Nature Communications. (2018-02-23)

Genetic heart diseases cause fewer SIDS deaths than previously thought, study finds
Genetic mutations linked to heart disease have been considered a leading cause of sudden infant death syndrome, but a new study by Mayo Clinic, British and Danish researchers finds they are to blame for far fewer SIDS deaths than previously thought. The findings are opening new lines of inquiry into possible causes of the syndrome and may help prevent unnecessary genetic testing of surviving family members. The study results appear in the Journal of the American College of Cardiology. (2018-03-12)

Small risks may have big impact on breast cancer odds of childhood cancer survivors
St. Jude Children's Research Hospital scientists found that the combined effect of common genetic variations can dramatically increase risk of breast cancer for female pediatric cancer survivors. (2018-10-26)

Severe obesity linked to newly identified gene mutations
Researchers have discovered mutations in a gene related to obesity, offering new treatment possibilities in the fight against the global epidemic. (2018-01-08)

Deadly lung cancers are driven by multiple genetic changes
A new UC San Francisco-led study challenges the dogma in oncology that most cancers are caused by one dominant 'driver' mutation that can be treated in isolation with a single targeted drug. Instead, the new research finds one of the world's most deadly forms of lung cancer is driven by changes in multiple different genes, which appear to work together to drive cancer progression and to allow tumors to evade targeted therapy. (2017-11-06)

Advanced-stage ovarian cancer patients with BRCA live longer, may respond better to treatment
Two abstracts underscoring the importance of testing for BRCA1/2 mutations in women with ovarian cancer were presented at this week's Society of Gynecologic Oncologists 39th Annual Meeting on Women's Cancers, by researchers from the University of Texas M. D. Anderson Cancer Center. (2008-03-10)

Study unravels the genetics of childhood 'overgrowth'
Researchers have undertaken the world's largest genetic study of childhood overgrowth syndromes -- providing new insights into their causes, and new recommendations for genetic testing. (2017-05-04)

Yale team's advance allows gene editing with surgical precision
Yale researchers report they have created a more precise and efficient technology to edit the genomes of living organisms, an ability that is transforming medicine and biotechnology. The new method, described Nov. 16 in the journal Cell, eliminates some of the drawbacks of genome editing technologies, which enables scientists to insert or eliminate genes within DNA. (2017-11-16)

New online tool gives 3-D view of human metabolic processes
A new computational resource called Recon3D provides a 3D view of genes, proteins and metabolites involved in human metabolism. Researchers used the tool to map disease-related mutations on proteins and also probed how genes and proteins change in response to certain drugs. The work provides a better understanding of disease-causing mutations and could enable researchers to discover new uses for existing drug treatments. (2018-02-27)

New method identifies splicing biomarkers for liver cancer
other cancer types. The Takeaway: Researchers have developed a method for identifying a new kind of biomarker for liver cancer and possibly other cancers, based on spotting variations in the way RNA messages copied from genes are edited, or spliced. (2018-03-02)

Quiescent cells also mutate
For almost a hundred years, geneticists have believed that the more a cell divides the more mutations it acquires. However, research by scientists at the Institut Pasteur shows that quiescent cells, which do not divide, also acquire a particular type of mutation -- deletions (mutations through loss of nucleobases). (2018-02-26)

Signalling study sheds light on conditions from alopecia to cancer
Researchers from the University of Dundee and the Francis Crick Institute have made a significant discovery about a cellular pathway associated with developmental defects and a myriad of diseases ranging from alopecia to colorectal cancer. The research, jointly led by Dundee's Dr. Gopal Sapkota and Professor Sir Jim Smith of the Crick, examined the role of a protein called PAWS1 in the Wnt signalling pathway, which is of fundamental importance in shaping developing embryos and controlling cell fate in adults. (2018-03-22)

A role for mutated blood cells in heart disease?
A new study provides some of the first links between relatively common mutations in the blood cells of elderly humans and atherosclerosis. (2017-01-19)

Mutations in neurons accumulate as we age; may explain normal cognitive decline & neurodegeneration
A study published online today in Science, led by researchers from Boston Children's Hospital and Harvard Medical School, used whole-genome sequencing of individual neurons and found strong evidence that brain mutations accumulate as we age. They also found that mutations accumulate at a higher rate in people with genetic premature aging disorders causing early brain degeneration. (2017-12-07)

AACR: How do melanoma cells survive drug treatment long enough to acquire drug resistance?
'What we find is that dabrafenib, even at high doses, does not fully turn off the MAPK pathway, thereby enabling eventual escape from drug,' says Sabrina Spencer, Ph.D. (2018-04-16)

Inherited BRCA2 mutations linked to increased risk of childhood lymphoma
A report from St. Jude Children's Research Hospital links inherited mutations in the BRCA2 gene with an increased risk of developing non-Hodgkin lymphoma in children and adolescents. The work appears as an advance online publication today in JAMA Oncology. (2019-07-25)

A gene that increases the risk of pancreatic cancer controls inflammation in normal tissue
A group of researchers at the Spanish National Cancer Research Centre has now discovered an unexpected link between the two processes: in the pancreas, one of the genes that increases the risk of developing pancreatic cancer also controls inflammation. This finding offers 'a major conceptual change,' explains Paco Real, from the CNIO, which, as well as helping to understand the origin of tumors, suggests new strategies to improve the prevention of pancreatic cancer. (2018-02-14)

Scientists close in on method to fight deadly childhood cancer
Focusing on a gene known as ALK in human cell lines and tissue samples, scientists used a small-molecule inhibitor to block abnormalities that apparently cause neuroblastomas, a type of cancer responsible for 15 percent of all cancer deaths in children. (2008-10-15)

Genomics study in Africa: Demographic history and deleterious mutations
Scientists from the Institut Pasteur set out to understand how the demographic changes associated with the Neolithic transition also influenced the efficacy of natural selection. By comparing the genome diversity of more than 300 individuals from groups of forest hunter-gatherers (pygmies) and farmers (Bantu-speaking peoples), from western and eastern Central Africa, they discovered that the reason pygmies did not suffer from excessive deleterious mutations was because of their genetic diversity and their admixture with the Bantu peoples. (2018-04-20)

Researchers discover new gene for hair loss
Hypotrichosis simplex leads to progressive hair loss already in childhood. A team of researchers led by human geneticists at the University Hospital of Bonn has now deciphered a new gene that is responsible for this rare form of hair loss. Changes in the LSS gene lead to impairment of an important enzyme that has a crucial function in cholesterol metabolism. The scientists now present their findings in the renowned journal ''The American Journal of Human Genetics''. (2018-11-06)

Two Colorado studies find resistance mechanisms in ALK+ and ROS1+ cancers
In one of 12 ROS1+ samples and 15 of 43 ALK+ samples, new kinases had been altered to allow treatment resistance. However, 'we found a lot of stuff besides kinase mutations,' a researcher says. 'What we're trying to say is that resistance happens in a lot of different ways and we need to be thinking about all the genetic and non-genetic changes that can occur.' (2018-04-10)

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