Current Gene Mutation News and Events | Page 3

Current Gene Mutation News and Events, Gene Mutation News Articles.
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Beyond changing DNA itself, mutagens also cause errors in gene transcription
The discovery that toxic stressors can cause errors in gene transcription opens new avenues of research on diseases such as Alzheimer's and Parkinson's and sheds light on the potential role of the ''transcriptome'' in aging. (2020-12-21)

Medical oddity reveals unheard-of 'immunity gene' mutations and new way to screen them
Researchers baffled by an infant's rare encephalitis case unusual in children found unheard-of mutations and a new way to examine the 'immunity gene.' (2020-12-20)

Antifungal drug improves key cystic fibrosis biomarkers in clinical study
A drug widely used to treat fungal infections improved key biomarkers in lung tissue cultures as well as in the noses of patients with cystic fibrosis, a clinical study by researchers at the University of Illinois Urbana-Champaign and the University of Iowa found. (2020-12-17)

CCNY scientists provide new insights into cholera microbe and chances of pandemic strain
Researchers at The City College of New York have uncovered a novel way in which Vibrio cholerae, the aquatic microbe that causes cholera, may increase its competitive fitness, and the likelihood of creating pandemic strains of the bacteria. (2020-12-17)

The DNA regions in our brain that contribute to make us human
With only 1% difference, the human and chimpanzee protein-coding genomes are remarkably similar. Understanding the biological features that make us human is part of a fascinating and intensely debated line of research. Researchers at the SIB Swiss Institute of Bioinformatics and the University of Lausanne have developed a new approach to pinpoint, for the first time, adaptive human-specific changes in the way genes are regulated in the brain. (2020-12-16)

Ensuring a proper body plan
Researchers from the University of Tsukuba have shown that the enzyme lysine demethylase 7a helps ensure the ordered axial development of the mouse embryo by modulating Hox genes which specify positional characteristics along the head-to-tail axis. Their findings suggest that the enzyme modulates Hox gene activation by regulating the repressive histone mark H3K9me2, an epigenetic modification of the DNA packaging protein Histone H3. This study opens avenues for further research into evolutionary developmental biology. (2020-12-16)

Clemson researcher identifies gene teams working in subregions of brain
You must first understand how something works normally before you can figure out why it's broken. Clemson University researcher Yuqing ''Iris'' Hang has identified six mini gene co-expression networks for a normally functioning brain. That will allow researchers to test each of the gene teams to see if gene pairs are changing in brain tumors or people with intellectual disabilities. (2020-12-16)

Two-year study details dynamics of Huntington's disease markers in patients
A new two-year longitudinal study reveals how two proteins linked to Huntington's disease - an incurable neurodegenerative disorder - change over time in patients and in as-yet asymptomatic people who carry a mutation that causes the condition. (2020-12-16)

Gene therapy for placental insufficiency moves toward the clinic
A new study identified an adenovirus gene therapy vector carrying a VEGF isoform. It can improve uterine blood flow in placental insufficiency. (2020-12-15)

Novel genomic tools increase the accuracy of breast cancer risk assessment
Findings from the FinnGen study encompassing 120,000 women indicate that inherited breast cancer risk should be assessed in an increasingly comprehensive manner. Currently, only individual gene mutations are taken into consideration in breast cancer therapy and prevention. The study demonstrates that more extensive genomic data can be used to identify women who are at high risk of breast cancer with considerably greater accuracy. Such knowledge can especially improve risk assessment among the close relatives of breast cancer patients. (2020-12-14)

Study reveals networks of genes involved in congenital heart disease
A group researchers at Gladstone Institutes and UC San Francisco led by Benoit Bruneau have made inroads into understanding what genes are improperly deployed in some cases of congenital heart disease. Their study, published in Developmental Cell, could point toward new ways to prevent or treat one of the most common birth defects. (2020-12-14)

A human gene placed in fruit flies reveals details about a human developmental disorder
Meier-Gorlin syndrome, or MGS, is a rare genetic developmental disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities. One mutation causing MGS, first reported in 2017, is a Lysine 23 to Glutamic acid (K23E) substitution in the gene for Orc6. Researchers have now put that mutant human gene into fruit flies to probe the function of Orc6 K23E. (2020-12-14)

Apathy could predict onset of dementia years before other symptoms
Apathy -- a lack of interest or motivation -- could predict the onset of some forms of dementia many years before symptoms start, offering a 'window of opportunity' to treat the disease at an early stage, according to new research from a team of scientists led by Professor James Rowe at the University of Cambridge. (2020-12-14)

Studies reveal potential weaknesses in SARS-CoV-2 infection
A single protein that appears necessary for the COVID-19 virus to reproduce and spread to other cells is a potential weakness that could be targeted by future therapies. (2020-12-10)

Predicting heart disease from the skin
Jefferson researchers find that the genetic underpinnings of a skin disorder at birth indicate future heart problems. (2020-12-10)

A potential therapy for one of the leading causes of heart disease
After 15 years of unrelenting work, a team of scientists from Gladstone Institutes has discovered a potential drug candidate for heart valve disease that works in both human cells and animals and is ready to move toward a clinical trial. Their findings were just published in the journal Science. (2020-12-10)

AAV capsid-promoter interactions in the non-human primate brain
The phenomenon of AAV capsid-promoter interaction recently seen in the rat central nervous system has now been shown to occur in the non-human primate brain. This interaction can directly determine cell-specific transgene expression (2020-12-10)

Uniquely human gene may drive numerous cancers
A new study published in FASEB BioAdvances reveals a human-specific connection between advanced carcinomas and a gene called SIGLEC12. (2020-12-09)

Evolution may be to blame for high risk of advanced cancers in humans
UC San Diego researchers discovered that most people no longer produce the Siglec-12 protein, but some of those who do are at twice the risk for advanced cancer. (2020-12-09)

Study reveals distinct genomic landscape for young adults with appendiceal cancer
The first study to compare molecular landscapes of early-onset and late-onset appendiceal cancer has revealed distinct non-silent mutations in the tumors of younger patients, setting the stage for the development of potential therapeutic advances for this rare disease. (2020-12-09)

Single-eye gene therapy improves vision in both eyes of patients with inherited eye disorder
A gene therapy for an inherited eye disorder can ameliorate vision loss in both eyes despite only being injected into one, according to a phase 3 clinical trial involving 37 patients. (2020-12-09)

Lab-grown human brain organoids mimic an autism spectrum disorder, help test treatments
UC San Diego researchers used brain organoids to identify two drug candidates that counteract the genetic deficiencies that cause Rett syndrome, a rare form of autism spectrum disorder. (2020-12-08)

Researchers discover key driver of the spread of cancer to the brain
Approximately 200,000 cancer patients are diagnosed with brain metastases each year, yet few treatment options exist because the mechanisms that allow cancer to spread to the brain remain unclear. However, a study recently published in the journal Cancer Cell by VCU Massey Cancer Center scientist Suyun Huang, M.D., Ph.D., offers hope for the development of future therapies by showing how a poorly understood gene known as YTHDF3 plays a significant role in the process. (2020-12-08)

Study finds large-scale expansion of stem rust resistance gene in barley and oat lineages
Stem rust is one of the most devastating fungal diseases of wheat and historically has caused dramatic, widespread crop failures resulting in significant yield losses around the world. Stem rust epidemics in major wheat growing areas could cause a major threat to global food security. Scientists have identified a resistance gene, Sr22, as one of the few characterized genes that protects against a large array of stem rust races. (2020-12-07)

Paper-based electrochemical sensor can detect COVID-19 in less than five minutes
A team from the University of Illinois at Urbana-Champaign's Grainger College of Engineering has developed a rapid, ultrasensitive test using a paper-based electrochemical sensor that can detect the presence of the virus in less than five minutes. It uses a graphene biosensor and is adaptable to other viruses. (2020-12-07)

Study reveals surprising benefit of clonal hematopoiesis in allogeneic transplants
Clonal hematopoiesis (CH) is a recently identified condition in which mutations associated with blood cancers are detected in the blood of some healthy, usually older, individuals who don't have cancer. People with CH, while asymptomatic, have an elevated risk of developing blood cancers and other negative health outcomes, including heart attacks and strokes. (2020-12-05)

'Off switch' during error-prone cell cycle phase may fix CRISPR's unwanted changes problem
Turning off gene-editing until it reaches cell cycle phases where more accurate repairs are likely to happen offers a promising fix to CRISPR-Cas9's problem with unwanted genetic changes. (2020-12-04)

Mimicking the effect of exercise with gene therapy
Gene therapy is the most effective method to be able to provide health benefits you normally gain through physical exercise. This means of ''training'' could be helpful for folks who can't exercise in the usual ways. (2020-12-04)

NIH researchers link cases of ALS and FTD to a Huntington's disease-associated mutation
A study led by researchers at the National Institutes of Health has made a surprising connection between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two disorders of the nervous system, and the genetic mutation normally understood to cause Huntington's disease. This large, international project, which included a collaboration between the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute on Aging (NIA), opens a potentially new avenue for diagnosing and treating some individuals with FTD or ALS. (2020-12-04)

New compact model for gene regulation in higher organisms
Genes can be turned on and off as needed to adapt to environmental changes. But how do the different molecules involved interact with each other? Scientists from the Institute of Science and Technology Austria (IST Austria) present a candidate mathematical model for gene regulation in eukaryotic cells. The study was published in PNAS. (2020-12-03)

What makes psoriasis sore: Novel role of immune system in the disease
More than 130 million people around the globe suffer from psoriasis vulgaris, a chronic condition characterized by skin inflammation, scales, and dry patches. However, its pathology is not fully clear. In a recent study, dermatology researchers from Japan have uncovered a complex cellular mechanism responsible for the onset of psoriasis and highlighted potential therapeutic targets for future treatment. (2020-12-03)

Advancing gene editing with new CRISPR/Cas9 variant
Researchers report the ability to improve safety and efficacy using a CRISPR-Cas9 variant known as miCas9. (2020-12-03)

Native American ancestry associated with more mutations in EGFR gene among Latin Americans
Among patients with lung cancer from Latin America, genomic and ancestry analyses revealed that Native American ancestry was associated with increased mutations in the EGFR gene, independent of smoking status. (2020-12-02)

Unexpected finding reveals new target for aggressive form of lung cancer
An MSK team has found that a particular subset of lung adenocarcinomas is aggressive due to a combination of two mutations that allow them to block ferroptosis, a type of cell death. (2020-12-02)

Circadian gene mutation increases self-administration of cocaine in mice
University of Pittsburgh researchers reveal a molecular basis for the deep and fundamental connection between the disruption in circadian rhythms and predisposition to substance abuse. (2020-12-02)

New activity found for CHD7, a protein factor vital in embryonic development
Research has yielded fundamental insights into the causes of severe birth defects known as CHARGE syndrome cases. These congenital birth defects include severe and life-threatening heart malformations. Researchers successfully inactivated the gene for CHD7 in the neural crest cells of mouse embryos, and then rigorously probed how this change in developing cardiac neural crest cells caused severe defects in the outflow tract and great arteries, leading to perinatal lethality. (2020-12-02)

Tweaking carotenoid genes helps tomatoes bring their a-game
Researchers led by the University of Tsukuba demonstrated that Target-AID gene editing technology can be used to simultaneously introduce single-base changes into multiple genes in tomatoes. Using this technique, the researchers altered three genes associated with carotenoid accumulation, resulting in elevated levels of carotenoids, particularly lycopene, in the resulting tomato lines. This technology will allow tomato breeders to introduce multiple advantageous gene changes into elite commercial cultivars, bypassing lengthy back-crossing steps between generations. (2020-12-01)

Scientists identify new genetic MND risk factor in junk DNA
Researchers from the University of Sheffield have identified a new genetic risk factor for Motor Neurone Disease (MND). (2020-12-01)

LSU Health New Orleans discovers drug development target for retinal dystrophies
A team of LSU Health New Orleans researchers reports for the first time that deleting one of the inhibitors of the RPE65 gene in a mouse model that carries a human disease mutation prevents degeneration of cone photoreceptors that are used for daytime high-resolution color vision. (2020-12-01)

Genetic treatment plus exercise reverses fatigue in mice with muscle wasting disease
Adding exercise to a genetic treatment for myotonic dystrophy type 1 was more effective at reversing fatigue than administering the treatment alone in a study using a mouse model of the disease. In fact, exercise alone provided some benefit whereas the genetic treatment alone did not. This study, carried out by researchers at Massachusetts General Hospital and collaborators, has implications for patients with fatigue due to genetics-related musculoskeletal diseases and other types of illness-induced fatigue. (2020-11-30)

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