Mutation News and Research

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Simple Neural Circuit Controls Chewing and Appetite

Speaking, singing, coughing, laughing, yelling, yawning, chewing-;we use our jaws for many purposes. Each action requires a complex coordination of muscles whose activity is managed by neurons in the brain.

24 Oct 2024

Personalized Mini-Brains Provide Insight into Autism Spectrum Disorder

Using stem cells generated from patients with a rare and severe form of autism spectrum disorder and intellectual disability, Scripps Research scientists have grown personalized "mini-brains" (or organoids) to study the disorder in new detail.

24 Oct 2024

DeepUrfold: A New AI Model Uncovers Hidden Protein Relationships and Redefines Fold Space

This study introduces DeepUrfold, a deep learning model that uncovers subtle structural links between proteins, advancing the field of protein evolution.

21 Oct 2024

Mutant Neurons Show Accelerated Development in Mouse Brain

The mechanisms behind intellectual disabilities and autism remain largely unknown. However, researchers from the labs of Prof. Pierre Vanderhaeghen and Prof. Vincent Bonin at the VIB-KU Leuven Center for Brain & Disease Research and NERF have identified that mutations in the SYNGAP1 gene interfere with the extended development of human neurons, a process believed to be critical for normal cognitive function.

15 Oct 2024

Unveiling a New Cellular Phase for Protein Compartmentalization

Classical mixture theory, which takes into account the percentage corresponding to each constituent as well as the interactions among constituents, can be used to model a system made up of two substances in physics.

14 Oct 2024

Unveiling the Link Between Genetics, Stress, and Type 2 Diabetes

The cells in the human pancreas have a limit to how much stress they can withstand before degenerating.

10 Oct 2024

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