Gene Mutation Current Events

Gene Mutation Current Events, Gene Mutation News Articles.
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Finnish researchers identified the cause for LGL leukemia
Researchers of the University of Helsinki, Helsinki University Central Hospital and Institute for Molecular Medicine Finland, have discovered that a mutation in the STAT3 gene is an underlying cause for LGL leukemia. Since the STAT3 gene is also abnormally expressed in many other cancers and autoimmune diseases, this finding has roused extensive interest. The research will be published in the New England Journal of Medicine on Thursday, May 17, 2012. (2012-05-16)

Identified an 'alarm clock' of a leukemia-causing oncogene
Researchers at the Bellvitge Biomedical Research Institute, led by Manel Esteller have shown that mutations in DNMT3A gene cause MEIS1 activacion, triggering leukemia. The study results are published in the journal Oncogene. (2015-10-08)

Non-uniform genetic mutations identified in lung cancers could lead to targeted treatment
Victorian researchers have extensively studied three of the more common genetic mutations and their distribution across individual lung cancers to see if they matched up to regions of different tumor architecture under the microscope. (2014-04-23)

Scientists Make Progress Against Bone Disease
An apparently harmless mutation in a gene that helps control the level of calcium in the blood may eventually be used to identify people with an increased risk of osteoporosis and other hormone-related bone diseases, a Johns Hopkins study suggests. (1996-09-10)

Banding together: RAS signaling of circadian output
In the June 15 issue of G&D, Drs. Jay Dunlap and Jennifer Loros, with colleagues at Dartmouth Medical School, have finally cloned the band gene, and have found that it is an allele of ras-1. This finding posits RAS signaling as a key mediator of circadian output. (2007-06-14)

A new mutation in kidney disease
Osaka University researchers find an unexpected mutation in proteins of the exosome could be a valuable biomarker for diagnosing the risk of kidney disease. (2017-06-14)

Noted science historian Elof Carlson traces how the idea of mutation has changed in 6 generations
The idea of mutation has changed considerably from the pre-Mendelian concepts of Darwin's generation to today's up-to-the-minute genomic context of mutation. The historical approach taken by (2011-06-08)

Researchers get a closer look at how the Huntington's gene works
A closer look at the DNA around the Huntington's disease gene offers researchers a new understanding of how the gene is controlled and how this affects the disease. These findings set the stage for new treatments to delay or prevent the onset of this devastating brain disease. (2015-05-04)

Discovery of human genetic mutation could lead to new treatments for type 1 diabetes
In type 1 diabetes, the immune system destroys insulin-producing cells in the pancreas, but the precise cause has not been clear. A study published by Cell Press on Mar. 5th in Cell Metabolism reveals that a single mutation in the (2013-03-05)

Scientists show how mutation causes incurable premature aging disease
Scientists have demonstrated how a mutation in a specific protein in stem cells causes an incurable premature aging disease called dyskeratosis congenita, and were able to introduce the mutation into cultured human cells using gene editing technology. (2016-10-31)

Inherited mutation leads to overproduction of EPO
A newly-discovered hereditary mutation is responsible for an increased production of erythropoietin (EPO) in the blood. This mutation causes a messenger RNA (mRNA) that is not normally involved in the formation of proteins to be reprogrammed so that it produces EPO, thus abnormally increasing the number of red blood cells. Researchers from the Department of Biomedicine at the University of Basel and University Hospital Basel reported these findings in The New England Journal of Medicine. (2018-03-08)

Teasing apart the effects of higher mutation load on fitness
As animals increasingly acquire interacting mutations that result in loss of gene function, the relative decline in their fitness may only be exacerbated, a new study in humans and fruit flies suggests. (2017-05-04)

Mutation in APC2 gene causes Sotos features
Sotos syndrome is a congenital syndrome that is characterized by varying degrees of mental retardation and a large head circumference etc. It is known that 90 percent of Sotos syndrome patients have mutations in the NSD1 gene. This time, an international research group has revealed that mutation in the APC2 gene causes symptoms of Sotos syndrome related to the nervous system, from analyses of the Apc2-knockout mouse. (2015-03-05)

Gene involved in colorectal cancer also causes breast cancer
Rare mutations in the NTHL1 gene, previously associated with colorectal cancer, also cause breast cancer and other types of cancer. Researchers from Radboud university medical center, Leiden University Medical Center and the Princess Máxima Center in the Netherlands report this new multi-tumor syndrome, in collaboration with international colleagues, in Cancer Cell. Nicoline Hoogerbrugge, professor of Hereditary Cancer at Radboud university medical center: 'We presumed to know all multi-tumor syndromes, but we have taken yet another step in identifying cancer genes.' (2019-02-11)

Breast cancer gene increases risk of several cancers in men
A genetic mutation implicated in an increased risk of breast and ovarian cancers also significantly increases the risk of pancreatic and prostate cancers in men, finds research in the Journal of Medical Genetics. The mutation in the BRAC2 gene may also increase the risk of bone and throat cancers, the data suggest. (2005-09-01)

LRRK2 gene mutation causes Parkinson's disease in several families
Neuroscientists at Mayo Clinic in Jacksonville, Fla., leading a team of researchers in the United States and Europe, have discovered that a novel mutation in the recently identified LRRK2 gene causes parkinsonism in several North American and European families. The disease causing G2019S mutation in the LRRK2 gene is the first time a genetic cause has been associated with typical, late-onset Parkinson's disease. (2005-02-25)

American genetic abnormality also discovered in the Netherlands
A genetic abnormality which causes hearing impairment has now been discovered in a Dutch family as well. The mutation was only known in America. The discovery was made by Martijn Kemperman during his doctoral research. He investigated the genetic characteristics of four inheritable abnormalities which cause hearing impairment and collected information about the associated clinical pictures. (2004-05-07)

Weight loss decreases risk of breast cancer in susceptible women
Women with a mutation in the gene BRCA1, which predisposes women to breast cancer, are 65% less likely to develop the disease if they lose weight between 18 and 30 years of age. Research published in the open access journal Breast Cancer Research suggests that young women with this genetic predisposition should avoid putting on weight in early adulthood, especially if they plan to have children. (2005-08-19)

Parkinson's gene linked to lung cancer
Researchers at the Medical College of Wisconsin, in collaboration with other colleagues of the Genetic Epidemiology of Lung Cancer Consortium, have identified a gene that is associated with lung cancer. (2015-01-29)

Gene Mutant Leads To Five-Fold Heart Attack Risk
Researchers have found a mutation in a fat-dissolving gene that raises the risk of heart attack by five-fold compared to individuals with a normal gene. Reporting in today's American Heart Association journal Circulation, they say the gene mutation may place 1 in 1,500 individuals at increased risk for heart attack. (1997-09-11)

Mutation in gene IDH a possible target for AML treatment
Though the IDH gene seems far removed from cancer, mutation in the gene starts a cascade that predicts an aggressive form of AML. Doctors may be able to target this mutation for therapy. (2012-07-13)

University of Utah vision researchers identify genetic cause of rare eye disease in Utah family
Vision researchers at the University of Utah's John A. Moran Eye Center have discovered a gene mutation responsible for causing a rare disease in four generations of a single Utah family. The discovery is reported in a recent issue of The American Journal of Ophthalmology (November 2004). (2004-11-11)

Movement impairments in autism could be reversible
Researchers from Cardiff University have established a link between a genetic mutation and developmental movement impairments in autism. (2019-02-13)

Overweight + gene mutation = elevated liver values in children
A study carried out at the Institute of Biomedicine of the University of Eastern Finland shows that a common mutation in the PNPLA3 gene combined with overweight results in elevated ALAT values in children. The ALAT value is an indicator of liver metabolism. (2014-06-17)

Like Angelina Jolie, study pinpoints genetic cause of increased leukemia risk
A University of Colorado Cancer Center study published today in the journal Nature Genetics describes a newly-discovered, heritable genetic cause of acute lymphoblastic leukemia, namely mutation of the gene ETV6. (2015-03-25)

Possible link between immune system and Alzheimer's
An international research team including scientists from the University of Toronto's Faculty of Medicine has discovered a link between a mutation in an immune system gene and Alzheimer's disease. (2012-11-14)

'Aggressive drunk' gene may protect carriers from obesity and associated risks
A genetic mutation which makes its bearers more likely to behave impulsively while intoxicated may shield them from obesity and change the way testosterone impacts insulin resistance, indicates a study conducted at the University of Helsinki, Finland. (2016-08-10)

In lung cancer, not all HER2 alterations are created equal
Study shows two distinct causes of HER2 activation in lung cancer: mutation of the gene and amplification of the gene. In patient samples of lung adenocarcinoma, 3 percent were found to have HER2 amplification and another 3 percent were found to have HER2 mutation. No samples were found to have both. These distinct causes of HER2 positivity imply the use of different targeted therapies to combat these related but possibly distinct diseases. (2016-01-28)

Birds of a feather: Pigeon head crest findings extend to domesticated doves
Evolutionary biologist Michael Shapiro and his team from the University of Utah made international headlines in 2013 when they found that a prominent change in pigeon plumage, head crests, could be traced to a mutation in a single gene. Now, in the new advanced online edition of Molecular Biology and Evolution, the research team has found an almost exact repeat in the evolutionary playbook in distantly related doves. (2015-06-23)

Horse gaits controlled by genetic mutation spread by humans, new study reveals
New research in Animal Genetics reveals that a horse's gait, an attribute central to its importance to humans, is influenced by a genetic mutation, spread by humans across the world. (2014-02-04)

Jefferson scientists identify gene defect leading to abnormal skin development and cancer
Researchers at Jefferson Medical College and at the Wadsworth Center in New York have identified a gene defect in mice resulting in a range of abnormalities, from cyclical hair loss and skin cancer to severe problems in normal skin development. The work may lead to improved treatments for skin injuries, including burns, and might have implications for diseases such as eczema and psoriasis, as well as certain cancers. (2005-10-02)

Mutation rate in a gene on the X chromosome holds promise for testing cancer risk
A new study to detect an elevated rate of mutations in a gene on the X chromosome holds promise for developing a test that could identify individuals at risk for developing cancer. (2005-09-15)

Common mutation linked to heart disease
A common mutation in a gene that regulates cholesterol levels may raise the risk of heart disease in carriers up to 49 percent, particularly among men and African Americans, according to a new UConn Health study. The findings are reported in the 20 May issue of PLOS ONE. (2015-05-20)

Scientists discover mutation that enhances plant defense
Sometimes scientists begin research and find exactly what they expected. Other times they discover something unexpected. Such was the case for a group of scientists studying plant stress responses who stumbled upon a new mutation. (2020-05-18)

Mutation associated with premature ovarian failure identified
A new study in the Journal of Clinical Investigation identifies a specific mutation in a family that results in premature ovarian failure. (2014-12-01)

Blue-eyed humans have a single, common ancestor
New research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6,000-10,000 years ago and is the cause of the eye color of all blue-eyed humans alive on the planet today. (2008-01-30)

The bassoon causing new brain disorder
Newly discovered gene mutations may help explain the cause of a disease that drastically impairs walking and thinking. (2018-03-22)

Mutation in deafness gene can help heal wounds and prevent infection
A mutation in a gene commonly associated with deafness can play an important part in improving wound healing, a scientist told the annual conference of the European Society of Human Genetics in Amsterdam, The Netherlands, today (Monday 8 May 2006). Dr. Stella Man, from the Institute of Cell and Molecular Sciences, Queen Mary's University, London, UK, said that the discovery may have implications for the treatment of a wide range of wounds, including post-surgery. (2006-05-08)

New drug, Vemurafenib, doubles survival of metastatic melanoma patients
A report published this week in the New England Journal of Medicine shows that the 50 percent of metastatic melanoma patients with a specific genetic mutation benefit from the drug Vemurafenib -- increasing median survival from about six months to 15.9 months. In patients who responded, the drug stopped cancer progression for a median 6.7 months. (2012-02-29)

Researchers identify genetic mutation linked to congenital heart disease
A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart disease -- the most common birth defect in the US. The finding, from a team in The Research Institute at Nationwide Children's Hospital, could help narrow the search for genes that contribute to this defect, which affects as many as 40,000 newborns a year. The findings were published in a recent issue of in Human Mutation. (2013-07-29)

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