Popular Gene Mutation News and Current Events

Popular Gene Mutation News and Current Events, Gene Mutation 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)

Fragmented turtles
Scientists looked at how fragmentation is affecting critically endangered Dahl's toad headed turtle (Mesoclemmys dahli) a forest-stream specialist found only in Colombia. (2019-05-09)

Basic cell health systems wear down in Huntington's disease, novel analysis shows
A new computational approach for analyzing complex datasets shows that as disease progresses, neurons and astrocytes lose the ability to maintain homeostasis. The ''Geomic'' approach can be applied to other diseases, authors say. (2021-02-23)

New features of a gene defect that affects muzzle length and caudal vertebrae in dogs
A recent genetic study at the University of Helsinki provides new information on the occurrence of a DVL2 gene defect associated with a screw tail and its relevance to canine constitution and health. The variant was found in several Bulldog and Pit Bull type breeds, and it was shown to result in caudal vertebral anomalies and shortening of the muzzle. The DLV2 variant may also affect the development of the heart. (2021-02-23)

UIC researchers invent new gene-editing tool
Researchers have discovered a new gene-editing technique that allows for the programming of sequential cuts -- or edits -- over time. (2021-02-23)

Microglia turned on
Part of the immune system in the brain is made up of so-called microglia cells. Korean and Singaporean researchers have now developed a fluorescent probe that specifically labels this type of macrophage. The cells were visualized in cell culture and in the live brains of rodents. As detailed in the journal Angewandte Chemie, a gene product expressed in microglia triggers the probe into a fluorescing state, which is detected through live-cell fluorescence imaging. (2019-05-27)

Symphony of genes
One of the most exciting discoveries in genome research was that the last common ancestor of all multicellular animals already possessed an extremely complex genome. It has long been unclear whether the arrangement of these genes in the genome also had a certain function. In a recent study, biologists show that not only individual genes but also these gene arrangements in the genome have played a key role in the course of animal evolution. (2019-08-05)

New cause of diabetes
Although insulin-producing cells are found in the endocrine tissue of the pancreas, a new mouse study suggests that abnormalities in the exocrine tissue could cause cell non-autonomous effects that promotes diabetes-like symptoms. These findings argue the existence of an unknown factor from the exocrine tissue that promotes proper endocrine development and suggest new therapeutic strategy for pancreas-related diseases. (2016-02-18)

Stem cell 'twins' to study disease
Researchers report a new gene editing method that can modify a single DNA base in the human genome with absolute precision. (2018-03-05)

A case where smoking helped
A mutation in the hemoglobin of a young woman in Germany was found to cause her mild anemia. But her father, who shared the mutation, did not develop anemia because his mutant hemoglobin was stabilized by carbon monoxide produced from his smoking. (2017-02-16)

University of Minnesota research discovers inhibitor to reverse toxic DUX4 effects
New University of Minnesota Medical School research identifies an inhibitor that protects cells from toxic effects associated with facioscapulohumeral muscular dystrophy in cells and mice. (2019-09-11)

Genome evolution goes digital
Dr. Alan Herbert from InsideOutBio describes ground-breaking research in a paper published online by Royal Society Open Science. The study focuses on the digital genome that uses programmable DNA-based on-off switches to change the readout of genetic information. The digital rewiring of the genome involves switch elements called flipons. Flipons fast track the evolution of multi-cellular organisms. The flipon strategy is less risky than other forms of evolution that require mutation to protein coding sequences. (2020-06-02)

Bascom Palmer Eye Institute announces breakthrough for degenerative vision disorder
A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic Neuropathy, an inherited genetic defect that causes rapid, permanent, and bilateral loss of vision in people of all ages, but primarily males ages 20-40. (2012-04-23)

'Filter' hones GWAS results to help researchers avoid dead ends
A genetics research team at Johns Hopkins Medicine has solved a dilemma facing researchers who use genomewide association studies (GWAS) by developing a new approach that strategically 'filters' which genes are worth further study. The researchers hope this strategy will accelerate the study of diseases such as Parkinson's, Alzheimer's, schizophrenia and even addiction by helping researchers avoid 'dead-end paths.' They are optimistic that this strategy will gain widespread use and will save researchers time and money. (2018-03-05)

Saving Beethoven
An optimized version of the CRISPR-Cas9 gene-editing system prevents hearing loss with no detectable off-target effects in so-called Beethoven mice, which carry a mutation that causes profound hearing loss in humans and mice alike. Results offer proof of principle for using the same gene-editing technique for other inherited human genetic diseases. (2019-07-03)

Enzyme may get key role in drug design for breast cancer and brain condition
In recent years, researchers have focused on the enzyme TLK2 suspecting it of playing a main role in several diseases. A new study conducted at the University of Copenhagen now reveals that the enzyme displays lower levels of activity in intellectual disability and that it is possible to inhibit it in breast cancer, where it is overactive. The study thus suggests that the enzyme may be a target for potential therapies. (2018-06-29)

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)

Genetic analysis can improve depression therapy
The failure of SSRI antidepressants can be a result of genetic variations in patients. Variations within the gene that encodes the CYP2C19 enzyme results in extreme differences in the levels of escitalopram achieved in patients, according to a new study from Karolinska Institutet in Sweden and Diakonhjemmet Hospital in Norway published in The American Journal of Psychiatry. Prescribing the dose of escitalopram based on a patient's specific genetic constitution would greatly improve therapeutic outcomes. (2018-01-12)

Promising gene replacement therapy moves forward at Ohio State
Research led by Dr. Krystof Bankiewicz, who recently joined The Ohio State University College of Medicine, shows that gene replacement therapy for Niemann-Pick type A disease is safe for use in nonhuman primates and has therapeutic effects in mice. These findings will publish online in the journal Science Translational Medicine. Prior to joining Ohio State as a professor of neurosurgery, Bankiewicz conducted this translational gene therapy research at the University of California at San Francisco. (2019-08-21)

How well will the flu vaccine work this winter?
Scientists from UTMB and Biomed Protection predicted which H3N2 variants would become 'vaccine resistant', and this prediction has been confirmed during the 2017 Australian flu season. The results published suggest that the current flu vaccine will work better during the 2018 US flu season than the 2017 Australian flu season. (2017-12-13)

Researchers develop a new method for turning skin cells into pluripotent stem cells
Researchers at the University of Helsinki, Finland, and Karolinska Institutet, Sweden, have for the first time succeeded in converting human skin cells into pluripotent stem cells by activating the cell's own genes. (2018-07-06)

The genetic signature of memory
Despite their importance in memory, the human cortex and subcortex display a distinct collection of 'gene signatures.' The work recently published in eNeuro increases our understanding of how the brain creates memories and identifies potential genes for further investigation. (2019-12-09)

Scientists move closer to treatment for Huntington's disease
Researchers show that a new version of the CRISPR/Cas9 system -- a modern tool for editing DNA -- is safer and more specific than versions previously used to remove the disease-causing DNA sequence in the defective gene that causes Huntington's disease. The study, which was carried out in cellular models from a Huntington's patient, brings a possible treatment for this currently incurable genetic disease one step closer. (2018-02-26)

X chromosome reactivation could treat Rett syndrome, other X-linked disorders
A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females. (2018-01-04)

Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity
The researchers have recently identified the tumor suppressor tuberous sclerosis complex 1 as a new co-chaperone of Hsp90 that affects Hsp90 binding to its inhibitors. Their findings suggest that TSC1 status may predict response to Hsp90 inhibitors in patients with bladder cancer, and co-targeting HDACs can sensitize tumors with Tsc1 mutations to Hsp90 inhibitors. (2019-10-10)

Impact of misunderstanding genetic tests for heart conditions
Patients who undergo genetic testing for inherited heart disease need to be better informed to know how to interpret the results and understand the impact the results will have on their life, a University of Sydney study has found. (2018-02-23)

A novel precision cancer model opens doors to personalized cancer treatment
Researchers from the Seve Ballesteros Foundation-CNIO Brain Tumour Group at the Spanish National Cancer Research Centre (CNIO) have developed an extremely powerful and versatile mouse model that will improve cancer research and accelerate preclinical testing of novel targeted therapies. Their work appears in Nature Communications. (2018-04-13)

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)

High levels of estrogen in lung tissue related to lung cancer in postmenopausal women
Researchers from Kumamoto University, Japan have found that postmenopausal women with multicentric adenocarcinoma of the lung have a higher concentration of estrogen in non-cancerous areas of the peripheral lung than similar women diagnosed with single tumor lung cancer. The research is an extension of their previous investigation into a gene mutation found to be related to an increased risk of multicentric lung cancer. (2016-10-25)

Can our genes help predict how women respond to ovarian cancer treatment?
New research, led by Professor Anna deFazio from the Westmead Institute and Westmead Hospital, has shown that the genes we inherit can have a significant impact on how the body processes chemotherapy drugs, which may lead to different clinical outcomes for ovarian cancer patients. (2018-02-15)

Gene expression patterns may help determine time of death
International team of scientists led by Roderic Guigó at the Centre for Genomic Regulation (CRG) in Barcelona shows that changes in gene expression in different tissues can be used to predict the time of death of individuals. Their results, which are published in Nature Communications this week, may have implications for forensic analyses. (2018-02-13)

Healthy blood stem cells have as many DNA mutations as leukemic cells
Researchers from the Princess Máxima Center for Pediatric Oncology have shown that the number of mutations in healthy and leukemic blood stem cells does not differ. Rather the location of the mutations in the DNA is relevant. Using the mutation patterns in the hematopoietic stem and progenitor cells (HSPCs) the team was able to trace the developmental lineage tree of the cells. (2018-11-28)

Dartmouth study reveals how fungal biofilm structure impacts lung disease
Findings from an innovative new study led by researchers at Dartmouth's Geisel School of Medicine and published this week in Nature Microbiology reveal that the way in which human fungal pathogens form colonies can significantly impact their ability to cause disease. Understanding how these colonies form could lead to new therapies that target these infections in critically ill patients. (2019-09-23)

How a genetic mutation can interfere with the powerhouses of cells
A Freiburg molecular medicine specialist's team discovers a new disease mechanism in the mitochondria. (2018-03-23)

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)

Intelligence deficit: Conclusion from the mouse to the human being
Impaired intelligence, movement disorders and developmental delays are typical for a group of rare diseases that belong to GPI anchor deficiencies. Researchers now used genetic engineering methods to create a mouse that mimics these patients very well. Studies in this animal model suggest that in GPI anchor deficiencies, a gene mutation impairs the transmission of stimuli at the synapses in the brain. The results are published in the journal PNAS. (2021-01-07)

Autism Speaks MSSNG study expands understanding of autism's complex genetics
A new study from Autism Speaks' MSSNG program expands understanding of autism's complex causes and may hold clues for the future development of targeted treatments. (2016-08-04)

How plants conquered the land
Research at the University of Leeds has identified a key gene that assisted the transition of plants from water to the land around 500 million years ago. (2016-05-19)

New method grows brain cells from stem cells quickly and efficiently
Researchers at Lund University in Sweden have developed a faster method to generate functional brain cells, called astrocytes, from embryonic stem cells. Astrocytes play a significant role in neurodegenerative diseases. The new method reduces the time required to produce the cells from months to two weeks, and the study has been published in Nature Methods. (2018-08-22)

Research reveals how estrogen regulates gene expression
The sequential recruitment of coactivators to the estrogen receptor complex results in dynamic specific structural and functional changes that are necessary for effective regulation of gene expression. (2017-08-24)

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