Mutation News and Research

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Researchers Develop Highly Selective SARS-CoV-2 Mpro Inhibitors

New research from The Wistar Institute's Salvino lab -; led by professor Joseph Salvino, Ph.D. -; has identified a novel series of SARS-CoV-2 Mpro inhibitors that may lead to potential new COVID-19 treatments that, according to preclinical testing, effectively inhibits COVID-19 and synergizes with existing anti-COVID therapies.

9 Oct 2024

A New Understanding of Chromatin Regulation and its Implications

Human survival is dependent upon an extraordinarily intricate dance that takes place inside every cell and every nucleus. DNA is continually being wrapped and unwrapped by proteins, and even small mistakes might result in cancer.

3 Oct 2024

Two Alzheimer’s Genetic Risk Factors Trigger Harmful Inflammation in Females

Weill Cornell Medicine investigators have found that two genetic variants that confer high risk of Alzheimer's disease (AD) together trigger a harmful inflammatory response in the brain's immune cells, particularly in females, in a preclinical model.

1 Oct 2024

A Novel Genetic Inference Method for Detecting Rare Disease Variants

Undiagnosed cases of Long QT syndrome have been found, thanks to an inventive examination of shared genomic sequences, which is a sign of distant “relatedness” and can cause irregular heart rhythms, fainting, and sudden cardiac death.

30 Sep 2024

Gut Bacteria Influence Hormonal Balance and Hypopituitarism Symptoms in Mice

Researchers at the Francis Crick Institute have shown that the balance of bacteria in the gut can influence symptoms of hypopituitarism in mice.

27 Sep 2024

Study Reveals Simplified Rules for Predicting Protein Behavior

In a study published today in the journal Nature, researchers from the Centre for Genomic Regulation (CRG) and the Wellcome Sanger Institute have discovered that mutations affect protein stability following remarkably simple rules.

26 Sep 2024

New Gene Editing Tool Shows Promise for Treating Diseases

Bacterial and archaeal CRISPR-Cas systems, comprising protein and RNA components, were initially developed as a natural defense mechanism against invading viruses.

24 Sep 2024

A New Method to Correct Misplaced Proteins in Cells

Cells are highly controlled spaces that rely on every protein being in the right place. Many diseases, including cancers and neurodegenerative disorders, are associated with misplaced proteins. In some cancers, for instance, a protein that normally stands watch over DNA replicating in the nucleus is sent far from the DNA it is meant to monitor, allowing cancers to grow.

23 Sep 2024

AI-Driven Insights into Lasso Peptide Biosynthesis

Lasso peptides are natural products made by bacteria. Their unusual lasso shape endows them with remarkable stability, protecting them from extreme conditions. In a new study, published in Nature Chemical Biology, researchers have constructed and tested models for how these peptides are made and demonstrated how this information might be used to advance lasso peptide-based drugs into the clinic.

23 Sep 2024

Research Shows a Causal Role of Histone Modifications in Gene Regulation

For any organism to survive and thrive, its cells must strictly control which genes are active when and where.

19 Sep 2024

New Guidelines Enhance Accuracy of DNA-Protein Interaction Studies

Researchers at University of California San Diego have published new guidelines that could help scientists significantly improve their results when quantifying the interactions between DNA and proteins.

17 Sep 2024

New Guidelines for Accurate Spike-In Normalization in DNA-Protein Interaction Studies

New criteria developed by researchers at the University of California San Diego may greatly enhance the accuracy of results obtained by scientists when assessing the interactions between proteins and DNA.

16 Sep 2024

CHIEF Model Transforms Cancer Evaluation with Enhanced Generalizability Across Diverse Histopathology Samples

The CHIEF model revolutionizes cancer diagnosis, leveraging histopathological imaging to predict tumor origins and survival outcomes with exceptional accuracy.

16 Sep 2024

Study Reveals Genes Influencing Menopause and Cancer Risk

New research has found four genes with some of the largest known effects on the timing of menopause discovered to date, providing new insight into links between menopause timing and cancer risk.

12 Sep 2024

Researchers Uncover Hundreds of New Potential Cancer Driver Genes

Researchers at the Centre for Genomic Regulation (CRG) have discovered hundreds of potential new cancer driver genes.

4 Sep 2024

Sae2 Regulates Critical DNA Repair Functions in Yeast

DNA damage is a cellular phenomenon that introduces structural abnormalities in double-stranded DNA. External factors, such as radiation or chemical agents, as well as internal factors, such as blocked DNA replication, can generate double-strand breaks (DSBs) in DNA.

29 Aug 2024

The Influence of 'Silent' Mutations on Genetic Disorders

Genetic disorders -; like cystic fibrosis and Huntington's disease -; are considered incurable, with gene mutations occurring in essentially every cell of the body.

29 Aug 2024

Stem Cell Research Sheds Light on Rare Pediatric Condition

Scientists have identified mutations in the DENND5A gene that cause severe neurodevelopmental issues in infants, leading to improper brain cell division during development.

28 Aug 2024

CDCA7's Role in DNA Methylation Maintenance Revealed in Recent Study

DNA methylation is a process in which a methyl group is attached to the cytosine base of the DNA molecule, and a major way that DNA is epigenetically marked. Epigenetic modifications can act as on-off switches to regulate gene expression and help generate diverse cell types without changing the underlying DNA sequence. It is how the body ensures that brain-related genes don't get turned on in heart cells, for example.

28 Aug 2024

The Role of DNA Repair Pathways in Antibody Somatic Hypermutation

In a recent online publication in SCIENCE CHINA Life Sciences, researchers from the laboratory of Leng-Siew Yeap at the Shanghai Institute of Immunology, Shanghai Jiao Tong University School of Medicine published a review article entitled "Molecular Mechanisms of DNA Lesion and Repair During Antibody Somatic Hypermutation". This review comprehensively summarizes the mechanisms involved in the generation of antigen-specific diversified antibodies, with a particular focus on the mechanisms that generate high-frequency point mutations and low-frequency deletions and insertions (indels) in antibody genes.

22 Aug 2024