Point mutation News and Research

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New approach could be a useful tool in the fight against cancer drug resistance

Using a virus to purposely mutate genes that produce cancer-driving proteins could shed light on the resistance that inevitably develops to cancer drugs that target them, a new study led by UT Southwestern scientists suggests.

10 Aug 2021

New insight into impact of SARS-CoV-2 mutations on receptor binding

A recent study by Canadian researchers, currently available on the bioRxiv* preprint server, contributes to the growing body of literature on emerging variants of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by appraising the impact of single mutations on their overall antigenicity and binding affinity for the angiotensin-converting enzyme 2 (ACE2) receptor.

9 Aug 2021

Start codon disruption with CRISPR-Cas9 gene editing prevents Fuchs’ corneal dystrophy in mice

In a new study, researchers at the University of Oregon's Phil and Penny Knight Campus for Accelerating Scientific Impact used start codon disruption with CRISPR-Cas9 gene editing to prevent Fuchs' corneal dystrophy in mice.

3 Aug 2021

Scientists discover drug candidates for treating liver fibrosis among pesticides

Skoltech biologists and their colleagues from Koltzov Institute of Developmental Biology, Russia, and the Chemistry Department of Taras Shevchenko University in Ukraine have discovered fairly unlikely drug candidates for treating liver fibrosis and other pathologies -- among pest control chemicals.

8 Jul 2021

Fatty acid binding site on SARS-CoV-2 spike triggers spike monomer crosstalk that is key to infectivity

A new study, released as a preprint on the bioRxiv* server, examines the role played by a fatty acid called linoleic acid (LA) that attaches at a binding site near the receptor-binding domain (RBD) of the spike protein. The spike exists as a homotrimer in open or closed conformations. In the former, at least one RBD points upwards.

14 Jun 2021

Researchers use base editing to sustainably lower high LDL cholesterol levels

Base editing is a novel gene editing approach that can precisely change individual building blocks in a DNA sequence.

19 May 2021

Zipper motif mediates SARS-CoV-2 spike trimerization within host cell membrane

A new preprint research paper posted to the bioRxiv* server describes the results of a nuclear magnetic resonance (NMR) study to determine the structure of the S protein transmembrane domain (TMD) and its membrane-proximal regions.

13 Apr 2021

Researchers explore mutational signatures associated with exposure to microplastic pollutants

According to the World Health Organization, plastic products and their chemical derivatives present in the environment present public health concerns on a global scale and more exploration on the potential impact to human health is needed.

3 Mar 2021

SARS-CoV-2 ORF7a mutation limits host immune suppression, finds study

Researchers have identified a high variability in the C-terminal end of ORF7a in SARS-CoV-2 sequences collected from around the globe. They noted that mutations result in a defective suppression of interferon and lowered replication rate.

25 Feb 2021

Moderna's COVID-19 vaccine effective against emerging variants

Researchers have conducted a study showing that the Moderna mRNA-1273 vaccine effectively protects against recently emerged variants of SARS-CoV-2 – the agent that causes COVID-19.

8 Feb 2021

Large-scale genome sequencing shows how SARS-CoV-2 mutated

A new study published on the preprint server bioRxiv* describes the results of genomic sequencing of the virus, which may help trace the routes of transmission of the virus from person to person, and from country to country.

10 Jan 2021

Spanish-originated SARS-CoV-2 variant A222V shows rapid spread in Lazio, Italy

A startling new study reports the rapid rise to dominance of a new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) strain in Italy. This strain, termed the GV clade, is characterized by a single point mutation.

2 Dec 2020

Researchers identify CLCN6 as disease gene for severe lysosomal neurodegenerative disorder

A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie and the Max Delbrück Center für Molekulare Medizin, together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children.

19 Nov 2020

Novel mutations in SARS-CoV-2 may explain high pathogenicity of COVID-19

Researchers in Korea and the United States have identified novel genetic variants that demonstrate the active mutational progression of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) – the agent that causes coronavirus disease 2019 (COVID-19).

15 Nov 2020

SARS-COV-2 traveled from China to West Africa directly or via Europe

With the onset of COVID-19, the focus of medical research has been on tracing the origin of SARS-CoV-2, which was first reported in China’s Wuhan city.

6 Oct 2020

A subunit SARS-CoV-2 vaccine may offer broader protection against virus

A new study published in the preprint server bioRxiv in September 2020 reports on the structure of this protein, as revealed by cryo-electron microscopy (cryoEM).

23 Sep 2020

Soluble ACE2 microbody blocks SARS-CoV-2 entry into lung cells

A new study by researchers at NYU Langone Medical Center and Weill Cornell Medical College and published on the preprint server bioRxiv* in September 2020 reports the potential of an angiotensin-converting enzyme 2 (ACE2)-antibody Fc complex in a new format that seems to offer more significant inhibition of SARS-CoV-2.

21 Sep 2020

SARS-CoV-2 a "swarm" of mutant viruses

In this new study, the virus was serially passaged in independent cell types in a controlled environment. The researchers found that the virus rapidly adapts to the changing conditions in culture by selecting for pre-existing species.

12 Aug 2020

Study shows how G406R single point mutation of the Cav1.2 channel confers autism

Autism spectrum disorder (ASD) is a heterogeneous disorder initiated early in development and characterized by abnormal social communication. Accumulating evidence supports the idea that specific mutations affect regulatory proteins that control arrays of cellular pathways.

3 Aug 2020

Researchers identify targeted treatment strategy for malignant pleural mesothelioma

The reactivation of telomerase is a key mechanism in the unrestricted growth of cancer cells. Malignant pleural mesothelioma (MPM) is a form of cancer originating from the mesothelium, a cell layer covering the lungs and the inside of the chest wall.

30 Jul 2020