Mutation News and Research

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Exploring the structure and dynamics of biological nanomachine

A small but important step towards a successful immune reaction is performed by an impressive nanomachine. Researchers use simulations to understand how it works.

28 Aug 2020

Inhibiting STING activation could be new therapeutic strategy to treat ALS and FTD

Alberto Yáñez Boyer, Ramón y Cajal researcher at BIOTECMED (Interdisciplinary Research Structure in Biotechnology and Biomedicine) and the Department of Microbiology and Ecology at the University of Valencia (UV), participates in a study on the C9orf72 gene and its mutations in the immune system.

28 Aug 2020

Study shows furin cleavage site is crucial for SARS-CoV-2 replication

In a recent bioRxiv* preprint paper, researchers from the United States demonstrate the pivotal role the furin cleavage site insertion in the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike glycoprotein plays in viral replication and pathogenesis – highlighting, in turn, the need for mutation monitoring when developing therapeutics and vaccines.

27 Aug 2020

Two viral gene targets needed in SARS-CoV-2 detection by PCR, say researchers

Researchers at the Chan Zuckerberg Biohub, San Francisco, and collaborators have warned against only targeting one viral gene when carrying out reverse transcriptase-polymerase chain reaction (RT-PCR) testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

27 Aug 2020

New sequencing approach can detect rare mutation in large number of cells

A sequencing approach can home in on a rare mutation within a large number of cells, revealing implications for CRISPR genome editing and early cancer detection.

27 Aug 2020

Study offers hope for treatment of Krabbe disease

In one out of 100,000 infants, a mutation in the GALC gene causes an incurable, always fatal disorder known as infantile Krabbe disease, or globoid cell leukodystrophy. Most children with the condition die before they turn 2.

26 Aug 2020

Largely ignored 'housekeeping' gene plays a role in seizures

Within cells, molecules known as transfer RNAs, or "tRNAs," play an important but unglamorous workhorse role in keeping the genetic translation process moving along from codes of DNA to functional proteins.

26 Aug 2020

Researchers shed light on Boston's SARS-CoV-2 superspreading event

Researchers in the United States have shown that failure to prevent the importation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) into Massachusetts led to superspreading that drastically altered the course of the epidemic and amplified the outbreak in this major urban area.

26 Aug 2020

First comparative data of encorafenib and paradox breaker inhibitors in BRAF mutant CRC

Oncotarget Volume 11, Issue 34 features Figure 1, "BRAF inhibitor-induced changes in cell viability," by Pickles, et al which reported that the BEACON CRC trial demonstrated a survival advantage over chemotherapy for a combination of targeted agents comprising the potent BRAF inhibitor encorafenib together with cetuximab and binimetinib.

26 Aug 2020

Exosomes: The cancer cell communication mechanism

Professor Deborah Goberdhan speaks to News-Medical about her team's latest research into cancer cells, and the mechanisms they use to communicate.

26 Aug 2020

Premenopausal women previously treated with radiation have worse breast cancer-specific survival

Among premenopausal women with breast cancer, those who were previously treated with radiation for a primary childhood, adolescent, or young adult cancer had worse breast cancer-specific survival.

26 Aug 2020

Inhaled steroid ciclesonide suppresses SARS-CoV-2 replication in vitro

A new paper by researchers at Japan’s National Institute of Infectious Diseases and published on the preprint server bioRxiv in August 2020 reports the in vitro suppression of coronavirus (CoV) replication by an inhaled corticosteroid (ICS) ciclesonide.

26 Aug 2020

Study tracks the mutation rate of SARS-Cov-2 virus

Since COVID-19 began its menacing march across Wuhan, China, in December 2019, and then across the world, the SARS-CoV-2 virus has taken a "whatever works" strategy to ensure its replication and spread.

25 Aug 2020

Study examines potential therapeutic approach for Alzheimer's disease

Research looking at a possible new therapeutic approach for Alzheimer's disease was recently published in the Journal of Neuroinflammation.

25 Aug 2020

Re-designed natural enzyme could reverse nerve damage caused by stroke, spinal cord injury

A team of researchers from University of Toronto Engineering and the University of Michigan has redesigned and enhanced a natural enzyme that shows promise in promoting the regrowth of nerve tissue following injury.

25 Aug 2020

Ferrets not susceptible to SARS-CoV-2 infection

A recent study by scientists at the Cummings School of Veterinary Medicine at Tufts University has revealed that ferrets are not susceptible to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection even if they are directly exposed to symptomatic coronavirus disease 2019 (COVID-19) patients for a prolonged time.

24 Aug 2020

DNA nanoswitches may provide an inexpensive platform to rapidly detect emerging viruses

Programmable DNA nanoswitches that bind to viral RNA in human body fluids may provide an inexpensive platform to rapidly detect a wide variety of emerging viruses, including SARS-CoV-2, according to a new study.

21 Aug 2020

Researchers reproduce the pathogenesis of hereditary kidney disease from human iPS cells

Joint research, led by Kumamoto University in Japan, has successfully reproduced the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) from human iPS cells in vitro.

21 Aug 2020

SARS-CoV-2 ORF9c responsible for immune evasion and efficient infection of host

A recent study by researchers at the Sanford Burnham Prebys Medical Discovery Institute and the University of California San Francisco and published on the preprint server bioRxiv in August 2020 shows that a protein encoded by the subgenomic sequence ORF9c of SARS-CoV-2 is responsible for the low antiviral response in infected humans, enabling the successful replication of the virus in the host.

21 Aug 2020

New York Blood Center receives $15.6 million NIH grant for sickle cell transfusion research

The National Heart, Lung and Blood Institute of the National Institutes of Health has awarded a five-year grant of $15.6 million to Karina Yazdanbakhsh, PhD, of New York Blood Center’s Lindsley F. Kimball Research Institute, to lead a collaborative research program studying the consequences of transfusions in patients with sickle cell disease and developing strategies to optimize transfusion management for this patient group.

21 Aug 2020