Mutation News and Research

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Engineered botox more effective

A new study reports on an engineered botulinum neurotoxin (botox) that is more effective as well as safer to use in various medical procedures. The study was published in March 2020 in the open-access journal PLOS Biology.

17 Mar 2020

Researchers elucidate new mechanism for controlling DNA methylation in cells

Why normal cells turn into cancer cells One of the factors is deeply related to the failure of the cell differentiation mechanism called DNA methylation.

17 Mar 2020

Recognizing CDKL5 Deficiency Disorder

News-Medical speaks to Dr. Dan Lavery about the LouLou Foundation, a non-profit organization dedicated to CDLK5 Deficiency Disorder.

17 Mar 2020

Increased competition between males can lead to higher rate of harmful mutations in offspring

Males that face tougher competition for females risk having offspring with a greater number of harmful mutations in their genome than males without rivals.

16 Mar 2020

Pediatric Infectious Disease Journal review: COVID-19 appears less severe in children

As outbreaks of COVID-19 disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue worldwide, there's reassuring evidence that children have fewer symptoms and less severe disease.

13 Mar 2020

Gut microbiota generate bursts of diversity at unprecedented amounts

Scientists lead by Isabel Gordo, catch in real time the emergence of bursts of diversity in the microbiota, caused by bacterial cells with mutation rates similar to those of cancer.

12 Mar 2020

Aspergillus molds induce asthma by first attacking the lung's protective barrier

University of Wisconsin-Madison researchers have identified a new way that common Aspergillus molds can induce asthma, by first attacking the protective tissue barrier deep in the lungs.

12 Mar 2020

Fruit flies provide insight on ACOX1-related neurodegenerative disorders

A study led by researchers at Baylor College of Medicine reports that a hyperactive variant of enzyme ACOX1 produces elevated levels of toxic reactive oxygen species (ROS) and causes a previously unidentified late-onset neurodegenerative disorder.

12 Mar 2020

Scientists identify genes involved in the development of diabetic kidney disease

By analyzing samples from hundreds of Finns with diabetes, scientists have identified genes, and the proteins they encode, that could be involved in the development of diabetic kidney disease.

12 Mar 2020

Researchers uncover clues to how statins kill cancer cells

More than 35 million Americans take statin drugs daily to lower their blood cholesterol levels. Now, in experiments with human cells in the laboratory, researchers at Johns Hopkins Medicine have added to growing evidence that the ubiquitous drug may kill cancer cells and have uncovered clues to how they do it.

12 Mar 2020

Blood test for microbial DNA could warn of cancer

A new study published in the journal Nature on March 11, 2020, could transform the currently held views on cancer causation and diagnosis. The researchers have come up with a new technique to detect the presence and type of cancer by looking at microbial DNA circulating in the blood of the person being screened.

11 Mar 2020

Researchers probe how specific genes can impact early brain development

When brains begin developing, there are a lot of moving parts -- and when mutations happen in early neurodevelopment, it can lead to disorders like macrocephaly and autism.

11 Mar 2020

Microbial DNA in the blood could help identify who has cancer

When Gregory Poore was a freshman in college, his otherwise healthy grandmother was shocked to learn that she had late-stage pancreatic cancer. The condition was diagnosed in late December. She died in January.

11 Mar 2020

Abnormal retinal gene function underlying vision loss in dogs

A canine study carried out at the University of Helsinki has described a gene variant in the regulatory region of the retina resulting in the abnormal function of retinal genes and, eventually, in the loss of vision in dogs.

10 Mar 2020

Study identifies a mutation that triggers deadly amyloidosis

Bone marrow plasma cells produce antibodies. These comprise two long and two short protein chains. The pathological proliferation of plasma cells can lead to an overproduction of the short chains.

10 Mar 2020

Gene therapy reverses cardiac dysfunction in mice with Barth syndrome

Barth syndrome is a rare metabolic disease in boys caused by mutation of a gene called tafazzin or TAZ. It can cause life-threatening heart failure and also weakens the skeletal muscles, undercuts the immune response, and impairs overall growth.

9 Mar 2020

Researchers uncover creeping, crawling origin of MYH9-related blood disorders

Ouch, you've cut your finger! As you fumble to grab a tissue, the paramedics in your blood are already rushing to the scene.

9 Mar 2020

Scientists map novel structure of so-called 'neurotransmitter: sodium symporter’

A novel structure of a so-called 'neurotransmitter: sodium symporter’ has been mapped at the University of Copenhagen.

6 Mar 2020

The Pancreatic Cancer Collective awards additional funding of $16 million for new therapies

The Pancreatic Cancer Collective, the strategic partnership of Lustgarten Foundation and Stand Up To Cancer, has awarded additional funding of up to $16 million to four teams of top researchers as part of its "New Therapies Challenge Grants," the American Association for Cancer Research, Scientific Partner of SU2C, announced today.

5 Mar 2020

New repair mechanism for alcohol-induced DNA damage discovered

Researchers of the Hubrecht Institute in Utrecht, The Netherlands, and the MRC Laboratory of Molecular Biology in Cambridge, United Kingdom, have discovered a new way in which the human body repairs DNA damage caused by a degradation product of alcohol.

4 Mar 2020