Mutations Current Events

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BRCA1 mutations in Polish breast-ovarian cancer families
Dr. Jan Lubinski and colleagues have found recurrent BRCA1 mutations in Polish families suffering from breast cancer. The identification of recurrent mutations in specific populations will lead to more effective screening of individuals for BRCA1 mutations, not only in Poland, but also in families of Polish descent. (2000-04-30)

Unexpectedly small effects of mutations in bacteria bring new perspectives
Most mutations in the genes of the Salmonella bacterium have a surprisingly small negative impact on bacterial fitness. And this is the case regardless whether they lead to changes in the bacterial proteins or not. This is shown by Uppsala University scientists in an article being published today in the prestigious journal Science. (2010-11-05)

'Tolerant' bacteria drive resistance to antibiotics
Disease-causing bacteria that become resistant most quickly to the antibiotic ampicillin do so by acquiring mutations that allow them to tolerate the antibiotic first, a new study reveals. (2017-02-09)

Genetic origin of neurodevelopmental disabilities in infants with heart disease
A new study identifies numerous genetic mutations that help explain why newborns with congenital heart disease have a high risk of neurodevelopmental disorders. (2015-12-03)

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)

Yeast study charts survival impact of genetic mutations
Scientists at the University of Edinburgh have mapped how thousands of genetic mutations can affect a cell's chances of survival. (2016-04-14)

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)

Young stem cell donors harbor undetectable mutations linked to disease
A pilot study of 25 donor-recipient pairs reveals that healthy young donors of stem cells harbor previously undetected and potentially disease-causing mutations in their blood stem cells, which were transferred to unrelated recipients of the transplants. (2020-01-15)

Driver gene heterogeneity is minimal among untreated metastases
The growth of different metastatic lesions within an individual cancer patient is driven by the same genetic mutations, a new study reports. (2018-09-06)

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)

Evolutionary kings of the hill use good, bad and ugly mutations to speed ahead of competition
Evolutionary adaptation is often compared to climbing a hill, and organisms making the right combination of multiple mutations -- both good and bad -- can become the king of the mountain, says a Michigan State University researcher. (2011-06-30)

Explaining why TP53 is commonly mutated in human cancer, and the effects of its mutation
A comprehensive functional analysis of TP53 mutations in human leukemia may refute a working hypothesis -- primarily based on mouse studies -- that missense mutations confer new cancer-causing functions to the p53 tumor suppressor protein; the new study instead suggests that these mutations exert a 'dominant-negative' effect that reduces the cancer-suppressing activity of wild-type p53, the authors say. (2019-08-08)

Evolution silences harmful mutations
Sometimes so-called synonymous mutations occur in DNA. These do not lead to a change in the protein sequence but which may still have major negative effects on the ability of bacteria to survive. New research from Uppsala University has now shown that an organism can efficiently compensate for the negative effects. These findings have been published in the journal Molecular Biology and Evolution. (2016-02-17)

Cancer-associated mutations are common in normal human esophagus
Unexpectedly, a new study finds that cancer-associated genetic mutations are surprisingly common in aged, healthy esophageal epithelium tissue. (2018-10-18)

Mapping mutations that escape antibodies against COVID-19 suggests prior mapping incomplete
A new approach to mapping viral mutations that 'escape' leading clinical antibodies has revealed mutations in the SARS-CoV-2 virus that allow it to evade treatments, including a single amino-acid mutation that fully escapes Regeneron's antibody cocktail. (2021-01-25)

Antimalarial resistance to drug not passed on to future generations
Parasites that develop resistance to the antimalarial drug atovaquone cannot pass this resistance on to offspring, a new study suggests, because their lifecycles are often disrupted by the drug's mechanism. Atovaquone is a drug that has been used to treat malaria, a mosquito-borne disease caused by parasites. (2016-04-14)

Mutations of immune system found in breast cancers
Mutations in the genes that defend the body against cancer-related viruses and other infections may play a larger role in breast cancer than previously thought, according to a study at the University of Illinois at Chicago. (2013-11-18)

Rare driver mutations disrupt NOTCH signaling to promote squamous cell carcinoma
Head and neck squamous cell carcinoma (HNSCC) -- a group of cancers that affect the the mouth, nose and throat -- is a disease driven by mutations in the NOTCH tumor suppressor signaling pathway, according to a new study. (2020-03-12)

Research reveals how succinate dehydrogenase is linked to both tumor and neurodegeneration
Sarah Fendt (VIB-KU Leuven): 'In this project we studied mutations in enzyme succinate dehydrogenase, which are associated with tumors, but also neurodegeneration. This is interesting, because tumors are defined by cells that show sustained proliferation and in this sense sustained fitness, while neurodegeration is defined by cells of impaired fitness. It is surprising that mutations in one and the same enzyme, which all lead to loss of enzyme expression result in two distinct disease phenotypes.' (2016-11-15)

Novel genetic mutations may arise during early embryonic development
Until now, de novo genetic mutations, alterations in a gene found for the first time in one family member, were believed to be mainly the result of new mutations in the sperm or eggs (germline) of one of the parents and passed on to their child. Researchers from The Netherlands have now succeeded in determining that at least 6.5 percent of de novo mutations occur during the development of the child (post-zygotic) rather than from the germline of a parent. (2015-06-05)

Frequent Genetic Mutations In Hepatocellular Carcinoma
Research by Christine Perret and coworkers (INSERM 129, directed by Axel Kahn, Paris) shows that mutations in the gene encoding the protein beta-catenin are frequent in hepatocellular carcinoma. As these mutations have already been described in other cancers, this discovery points to their widespread involvement in carcinogenesis. (1998-07-21)

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)

UV light may be a greater risk for melanoma than suspected
Studies conducted in yeast show that exposure to ultraviolet light (UV) induces new types of DNA damage that may cause the deadliest form of skin cancer, malignant melanoma. While melanoma has been associated with UV light, this study directly links UV exposure to the atypical mutations known to spread the disease. The results also indicate that UV light can induce a more diverse spectrum of mutations than previously suspected. (2020-11-17)

Risk of breast and ovarian cancer may differ by type of BRCA1, BRCA2 mutation
In a study that involved more than 31,000 women who are carriers of disease-associated mutations in the BRCA1 or BRCA2 genes, researchers identified mutations that were associated with significantly different risks of breast and ovarian cancers, findings that may have implications for risk assessment and cancer prevention decision making among carriers of these mutations, according to a study in the April 7 issue of JAMA. (2015-04-07)

Rare mitochondrial mutations -- maybe not so rare?
French scientists have discovered that supposedly rare mutations in the mitochondria, the (2013-06-08)

Using test tube experiments to study how bacterial species evolve antibiotic resistance
Given a critical change in the environment, how exactly, do species adapt? Professor Tom Vogwill and colleagues wanted to get at the heart of this evolutionary question by measuring the growth rates and DNA mutations of 8 different species of Pseudomonas bacteria. They controlled a single but vital variable during growth, the dose of the antibacterial drug rifampicin. (2014-10-14)

Similarities between cancerous and normal skin cells
Normal human skin cells harbor a surprisingly large number of un-inherited mutations that crop up over time, including many known cancer-promoters that help to drive tumor growth, researchers say. (2015-05-21)

Russian scientist finds a new way to predict cancer development
Aleksey V. Belikov, a scientist from the MIPT Laboratory of Innovative Medicine and Agrobiotechnology, used the publicly available data on 20 million cancer cases and examined 16 probability distributions, finding that the incidence of 20 most prevalent cancer types in relation to patients' age closely follows the Erlang probability distribution, which is widely used in telecommunications for incoming call simulations. Notably, it is the only probability distribution that describes the waiting time for several random events, such as DNA mutations. (2017-09-26)

Bursts of diversity in the gut microbiota
The diversity of bacteria in the human gut is an important biomarker of health, influences multiple diseases, such as obesity and inflammatory bowel diseases and affects various treatments. How such diversity is maintained remains a mystery. (2020-03-12)

Mutation types in diverse cancers associated with smoking
Researchers have surveyed thousands of genomes of human tumors from smokers and nonsmokers and identified mutational signatures that are associated with tobacco smoke; for example, only cancer originating in tissues directly exposed to smoke showed a signature characteristic of a known tobacco carcinogen, report the researchers. Smoking is a risk factor for at least 17 types of cancer and claims the lives of more than six million people every year. (2016-11-03)

An article in 'Cell' reveals a new resistance mechanism to chemotherapy in breast and ovarian cancer
The team led by Spanish National Cancer Research Centre researcher Óscar Fernández-Capetillo, head of the Genomic Instability Group, together with researchers from the National Cancer Institute in the US, have participated in a study that describes the causes that explain why tumors with BRCA1 and BRCA2 mutations stop responding to PARP inhibitor drugs. (2013-06-18)

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)

The link between TB and a gene mutation that causes lung cancer
Research presented in the February 2012 issue of the International Association for the Study of Lung Cancer's Journal of Thoracic Oncology shows a link between TB and mutations in the epidermal growth factor receptor, a type of gene mutation found in non-small cell lung cancer. Researchers concluded that there is a relationship between pulmonary TB and EGFR mutations in patients with adenocarcinoma of the lungs. Adenocarcinoma is the most common type of lung cancer. (2012-01-17)

DNA damage leads to genetic diseases and cancer
Scientists revealed how DNA damage influences mutations. Turned out that its contribution to mutagenesis was underestimated and many of the inheritance mutations are caused not by errors in DNA doubling, but by damage to this fragile molecule. The study was conducted by an international research group and published in Nature Genetics. (2018-12-05)

Mutations driving leukemia identified
An international team of scientists from the US, Germany and Austria identified novel genes associated with chronic lymphocytic leukemia through the analysis of high-throughput sequencing data. (2015-10-15)

Framework identifies genetic missense mutations linked to autism spectrum disorder
A new study published in Nature Genetics established a computationally integrated approach to investigate the functional impact of missense mutations. (2018-06-11)

Research breakthrough on male infertility
New findings by a team of Australian and Swedish researchers will go a long way toward explaining the underlying causes of male infertility. (2011-05-12)

Mutation database helps personalized treatment of lung cancer
A groundbreaking free tool to help oncologists choose the best therapies for patients with non-small-cell lung cancer has been launched this week by scientists at the 1st European Lung Cancer Conference jointly organized by the European Society for Medical Oncology and the International Association for the Study of Lung Cancer in Geneva, Switzerland. (2008-04-25)

The fine-tuning of human color perception
The evolution of trichromatic color vision in humans occurred by first switching from the ability to detect UV light to blue light (between 80-30 MYA) and then by adding green-sensitivity (between 45-30 MYA) to the preexisting red-sensitivity in the vertebrate ancestor. The detailed molecular and functional changes of the human color vision have been revealed by Shozo Yokoyama et al. of Emory University and is published in the journal PLOS Genetics. (2014-12-18)

New mutations in iPS cells are mainly concentrated in non-transcriptional regions
By performing genomic analysis on both mouse and human iPS cells, scientists have found that unlike disease-causing single nucleotide polymorphisms, the mutations found in iPS cells tend to be concentrated into non-transcribed areas of the genome between genes. (2017-10-10)

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