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Mutations in Biological News

Women often opt to surgically remove their breasts, ovaries to reduce cancer risk

... carriers. BRCA1 and BRCA2 are hereditary gene mutations that indicate an increased risk for developing ... 25 percent lifetime risk of breast cancer without mutations also had a documented increase in risk-reduction ... widely used by carriers of BRCA1 and BRCA2 gene mutations to reduce the risk for breast and ovarian cancer. ...

Stem cell 'daughters' lead to breast cancer

... for breast cancers that develop in women carrying mutations in the gene BRCA1. BRCA1 gene mutations are found in 10-20 per cent of women with hereditary breast cancer. Women with BRCA1 mutations often develop 'basal-like' breast cancer, which ...

$2 million grant aids study of lung cancer in people who never smoked

... more likely than smokers to harbor one of three mutations in the epidermal growth factor receptor (EGFR) gene. In addition, they found that such mutations are more common in women and among people of ... specimens to conduct studies in proteomics, gene mutations and copy numbers, microRNAs (ribonucleic acid), ...

Ben-Gurion U. researchers reveal connection between cancer and human evolution

... of the Negev (BGU) have discovered that gene mutations that once helped humans survive may increase the ... in the Negev (NIBN) set out to look for mutations in the genome of the mitochondria, a part of ... changes, such as climate shift, with mutations that increased their chances of survival. But ...

Structural biology scores with protein snapshot

... mutagenesis studies in which they characterized mutations at each amino acid in DAGK and used the data to ... onto the structure. They identified two sets of mutations that resulted in non-functional DAGK. One set ... team was surprised to find that nearly all of the mutations that caused misfolding were in the active site. ...

Scripps Research scientists observe human neurodegenerative disorder in fruit flies

... that some people with Charcot-Marie-Tooth have mutations in their genes that make a critical human protein ... need them to grow, divide, and survive." When mutations in tyrosyl-tRNA synthetase were linked to ... debated whether problems arose because the mutations interfered with tRNA synthetase's normal ...

Researchers observe single protein dimers wavering between two symmetrically opposed structures

... of energy for the syn and anti structures, with mutations or conditions being able to alter this balance. They predicted that certain mutations in the protein sequence would allow a single ... of clinical implications," Deniz says. "Small mutations in proteins could throw off the delicate balance ...

Recruitment of reproductive features into other cell types may underlie extended lifespan in animals

... Molecular Biology have found that certain genetic mutations known to extend the lifespan of the C. elegans ... and other researchers discovered that simple mutations in genetic pathways conserved throughout ... the lifespan of C. elegans , and that similar mutations in the corresponding pathways also dramatically ...

Protein linked to mental retardation controls synapse maturation, plasticity, CSHL team finds

... progress in elucidating the pathophysiology of mutations in the OPHN1 gene. The protein normally ... structure for the contents of cells. "All mutations that we know of in the OPHN1 gene lead to OPHN1 ... "Our work suggests a cellular mechanism by which mutations in OPHN1 can contribute to cognitive deficits ...

Genetic testing for breast or ovarian cancer risk may be greatly underutilized

... Although a test for gene mutations known to significantly increase the risk of ... clinical practice. "Testing for BRCA1 and 2 mutations has been around a long time and should be a good ... cancer is less than 2 percent. But women with mutations in the BRCA1 or BRCA2 genes may be 3 to 7 times ...

Stowers researchers develop whole genome sequencing approach for mutation discovery

... a "whole-genome sequencing approach" to mapping mutations in fruit flies. The novel methodology promises to reduce the time and effort required to identify mutations of biological interest. The work was published in ... is labor intensive and time consuming, and many mutations that cause medically relevant phenotypes are not ...

Tiny differences in our genes help shed light on the big picture of human history

... extinction and helps scientists close in on gene mutations that make some demographic groups more likely to ... of population events help inform the search for mutations that might have been helpful and necessary for ... segments of DNA containing very small genetic mutations that only involve a single letter of the genetic ...

Avian flu research sheds light on swine flu outbreak

... pigs, an avian flu virus requires relatively few mutations to spread rapidly between mammals by respiratory ... surface, and two internally. Two of the surface mutations were determined to be solely responsible for ... respiratory droplet transmission. Because so few mutations were necessary to make the hybrid H9N2 ...

Cystic fibrosis testing -- next steps

... is an autosomal recessive disease caused by mutations in the CFTR gene; cystic fibrosis patients must ... Genetic screening for cystic fibrosis carrier mutations (one copy of a mutated gene) is universally ... call for screening a panel of 23 common mutations in CFTR ; however, many laboratories screen for ...

Scaling the wall of deafness

... previously discovered 4 deafness genes and novel mutations in 15 deafness genes, among 46 known ones. ... says. In separate studies in the UK and Spain, mutations in a single microRNA were just reported to cause ... Prof. Avraham. "Until now science only knew that mutations in protein-coding genes caused deafness. We went ...

New insights into progressive hearing loss

... In the human studies, two families showed mutations in miR-96 - but they each carried the mutation at ... The team also looked to see whether the mutations altered the production or stability of miR-96 and ... function of miR-96 were impaired by these human mutations in the lab studies. Researchers are using ...

Penn biologists discover how 'silent' mutations influence protein production

... levels are governed by synonymous, or silent, mutations within the protein-coding region. Synonymous mutations do not change the amino-acid sequence of a ... mechanism underlying this regulation: synonymous mutations determine mRNA folding and thereby the eventual ...

Gene discovery could lead to male contraceptive

... infertility in mice, the researchers found that mutations in both Iranian families occurred in a single ... CATSPER1. DNA analysis revealed two different mutations -- one in each family -- but both mutations would likely lead to either a very truncated, ...

CSHL team develops mouse models of leukemia that predict response to chemotherapy

... heterogeneity, meaning that the hundred or so mutations associated with this form of cancer occur in ... outcomes in different ways. Some gene mutations in cancer have been correlated with clinical ... by first identifying the most commonly occurring mutations in a group of 111 children with AML and then ...

Stem cell breakthrough: Monitoring the on switch that turns stem cells into muscle

... R. Capecchihave created a "switch" that allows mutations or light signals to be turned on in muscle stem ... called "Cre," which, when activated, can trigger mutations in muscle stem cells. This Cre trigger is ... scientists were able to activate tumor-causing mutations in muscle stem cells, providing valuable insights ...

Skin cancer study uncovers new tumor suppressor gene

... normal DNA from the same patients, looking for mutations in all 23 members of the MMP gene family. The researchers identified 28 different mutations in eight MMP genes in the melanoma tumors studied. These mutations were found to be distributed in different ...

Getting down to cancer basics

... tumor types. This is the first example of mutations in a gene of this functional class. The finding arose from a study of mutations in 4000 genes in kidney cancer. "UTX is an ... massive DNA sequencing study, the team found rare mutations of the UTX gene in clear cell renal cancer - a ...

Therapeutic cloning gets a boost with new research findings

... five to ten-fold lower rate of spontaneous point mutations than adult somatic cells, which give rise to the ... if cloning by SCNT leads to progeny with more mutations than their naturally conceived counterparts. ... DNA programming predisposing them to develop mutations faster than natural fetuses of the same age? ...

Research yields potential target for cancer, wound healing and fibrosis

... a panel of stable cell lines containing different mutations in cells of the beta-1 integrin tail. In the ... is of therapeutic interest. These beta-1 tail mutations are thought to disrupt the ability of the ... not. They demonstrated that specific beta-1 tail mutations can affect cell signaling, cell spreading or ...

Cats' eye diseases genetically linked to diseases in humans

... both cats and humans. "The same genetic mutations that cause retinal blindness in humans also cause ... of Veterinary Medicine. "Now, cats with these mutations can be used as important animal models to ... Researchers examined the genetic mutations in two groups of cats; one with a congenital form ...

Researchers identify 4 genetic hotspots associated with psoriasis

... CITY A genomewide scan of millions of genetic mutations has revealed four new DNA "hotspots" that affect ... encode proteins that bind to IL-23A and that mutations in any of those genes may predispose people to ... could be close to 300. Once all the gene mutations connected to psoriasis have been indentified, ...

Evolutionary process more detailed than previously believed, study shows

... the possibility of this competition, beneficial mutations that have been lost during the evolution of an ... explained. "Indeed, we found that several of the mutations were nearly lost in the population by the end of ... drugs," Kao said. "As it fights for its survival, mutations occur that help make this fungus resistant to the ...

Scientists uncover evolutionary keys to common birth disorders

... by Dr. Jezewski, and other groups, identified mutations within the human MSX1 gene in two different birth ... that include tooth and nail malformations. The mutations associated with the more severe clefting disorder ... Msx likely to underlie disease, and indicated why mutations in the same gene can lead to either orofacial ...

Mayo Clinic: Brain disorder suggests common mechanism may underlie many neurodegenerative diseases

... report that people with Perry syndrome have mutations in a subunit of the dynactin complex (DCTN1; ... brain cells, or neurons. In this case, the mutations meant that the cargo was being driven on a ... by faulty signaling, due to pathogenic mutations in the leucine-rich repeat kinase 2(LRRK2) gene, ...

Avian flu becoming more resistant to antiviral drugs, says University of Colorado study

... to adamantanes arose through novel genetic mutations rather than an exchange of RNA segments within ... technology that portrays the individual gene mutations and spread of the avian flu around the globe, ... amino acid sequence changes in genes lead to mutations that affect drug resistance in the H5N1 virus and ...

Study: Excessive use of antiviral drugs could aid deadly flu

... that about one-third of those samples carried mutations enabling the virus strains to resist the effects ... effects of adamantanes. To evade adamantanes, mutations can occur at several positions on the protein, ... because the avian flu virus strains experienced mutations that changed the M2 protein to evade the drug ...

Safe new therapy for genetic heart disease

... previous signs of illness. HCM can be caused by mutations in a number of different genes, and different gene mutations may result in more or less severe symptoms. ... was found to be dependent on the underlying gene mutations in each patient. They did not observe any ...

UT Southwestern researchers identify gene linked to inherited form of fatal lung disease

... causing the disease. This led to the discovery of mutations in genes called TERT and TERC. These two genes ... the cells to remain effectively immortal. mutations in either of these two genes can be found in ... individuals with the disease they were led to mutations in a gene called SFTPA2. The protein produced by ...

Brain background to body mass

... maintain the status quo. "Very occasionally, mutations in genes active in the hypothalamus have dramatic ... Unit, "such that people carrying these mutations are severely obese. Such mutations might be considered exceptional. "However, we ...

Irritable bowel syndrome can have genetic causes

... with diarrhea show a higher frequency of certain mutations ", ex-plains Dr. Beate Niesler, who investigates ... the Heidelberg Institute of Human Genetics. These mutations appear to cause changes in the composition or ... of specific medications for certain genetic mutations in patients. Correlation with depression and ...

Kidney function discovery sheds light on genetic complexity of disease

... "The study demonstrates that in some cases mutations occur only in one gene, while in other cases mutations in two or even three different genes are observed, and that the disorders can arise due to mutations in a group of genes carrying out related ...

M.I.N.D. Institute researchers call for fragile X testing throughout the lifespan

... Institute researchers urge physicians to test for mutations of the fragile X gene in patients of all ages. ... after decades of research, it is clear that mutations in this gene cause a range of diseases, including ... of these patients are also at risk because the mutations are passed on from generation to generation. ...

Washington University scientists first to sequence genome of cancer patient

... The researchers discovered just 10 genetic mutations in the patient's tumor DNA that appeared to be relevant to her disease; eight of the mutations were rare and occurred in genes that had never ... be acquired. The scientists suspect that all the mutations were important to the patient's cancer. Like ...

Researchers identify promising gene target for neuroblastoma therapy

... have identified a set of previously unknown mutations in a single gene in 8 percent of neuroblastomas, ... neuroblastoma cell lines carrying two of the mutations to die when treated in the laboratory. This suggests that when mutations activate the gene, known as ALK, tumors become ...

Design of a compound that stabilizes the main natural suppressor of tumors

... protein p53 stable even when it presents certain mutations that promote the appearance of cancer. Giralt, ... More than 50% of cancer patients have mutations in the p53 gene. Although most of these are located in the DNA binding domain, several mutations are found in the tetramerization domain, thereby ...
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(Date:8/20/2014)... George E. Fox, a John and Rebecca Moores Professor ... was named a fellow in the International Society for the ... is one of four members two from the U.S., ... fellows in 2014. Fellows are elected every three years, and ... members from more than 20 countries, the ISSOL includes researchers ...
(Date:8/20/2014)... research finds life can persist in a cold, dark ... a team that examined waters and sediments from a ... found the extreme environment supports microbial ecosystems. , ... her colleagues has implications for life in other extreme ... The findings are published in the current edition of ...
(Date:8/20/2014)... in in this image of the Para and Mato ... most likely intentionally set in order to deforest the ... stand of trees where the land is thereafter converted ... of forestland to farms, ranches, or urban use. The ... the Amazon Rainforest in the middle of the image ...
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(Date:8/21/2014)... arteries of chronic kidney disease patients may be a ... new study in the Journal of the American ... the Johns Hopkins Bloomberg School of Public Health assert ... of subclinical atherosclerosis in predicting the risk of heart ... percent of all patients with chronic kidney disease (CKD) ...
(Date:8/21/2014)... Patients with advanced laryngeal cancer appear to have ... than nonsurgical chemoradiation. , Author: Uchechukwu C. Megwalu, ... at Mount Sinai, New York, and colleagues. , ... cancer are diagnosed each year and squamous cell ... tumors. Prior to 1991, total surgical removal of ...
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