Mutation News and Research

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Mice Studies Shed Light on Serotonin and Memory

Memory regulation in humans and animal models is regulated by the serotonin 2C receptor in the brain, according to research from Baylor College of Medicine, the University of Cambridge in the United Kingdom, and affiliated institutions.

1 Jul 2024

Unlocking the Secrets of Aging Brains

Researchers have determined the potential mechanisms through which some long-lived mutants of the Caenorhabditis elegans model system experience cognitive decline and others can retain learning and memory into old age.

26 Jun 2024

Using iPSC-Derived Cardiomyocytes to Uncover Mechanisms of Hypertrophic Cardiomyopathy

Using animals to study heart disease doesn't always translate well to human health outcomes, and human heart cells available for research don't work outside the human body.

25 Jun 2024

Study Identifies Three Distinct Subtypes of Clear Cell Renal Cell Carcinoma Using Radiomics and Transcriptomics

Using transcriptomics and radiomics data clustering and its association with molecular characteristics, clinical pathologies, and prognosis to define intrinsic subtypes of ccRCC.

24 Jun 2024

Christchurch Variant Offers Protection Against Early-Onset Alzheimer's

A scientific story that began with a discovery in just one extraordinary patient is now panning out.

21 Jun 2024

New Clinical Trial Offers Path to Sickle Cell Cure

The most recent results from a clinical trial were given by researchers in an effort to find a cure for sickle cell disease, a painful genetic blood illness that has few available treatments.

17 Jun 2024

Whole Genome Sequencing Provides Answers Where Exome Sequencing Falls Short

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly.

11 Jun 2024

Engineered Enzyme Boosts Gene Editing Efficiency for Potential Cystic Fibrosis Treatment

Researchers at the Broad Institute of MIT and Harvard have enhanced a gene-editing technology, enabling it to efficiently insert or substitute entire genes in the genome of human cells.

11 Jun 2024

Study Highlights Key Protein-Lipid Interactions in Mitochondrial Energy Production

By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how our cells produce energy.

10 Jun 2024

Impact of Rare Disease Mutation Could Extend to More Prevalent Conditions

REX1 is a gene that is meant to direct the maintenance of the entire body’s DNA, but new research shows that when people are born with mutated TREX1, the DNA suffers catastrophic damage over time, resulting in a deadly rare disease known as retinal vasculopathy with cerebral leukoencephalopathy (RVCL).

5 Jun 2024

Engineered DNA PROTAC Shows Promise for p53-R175H Mutant Cancers

A synthetic bicomponent compound specifically targets and eliminates a mutant protein associated with multiple forms of cancer.

30 May 2024

Stick Insect Research Sheds Light on Evolutionary Dynamics

A long-standing debate among evolutionary scientists goes something like this: Does evolution happen in a predictable pattern or does it depend on chance events and contingency?

27 May 2024

Mapping Neurodevelopmental Disease with High-Throughput In Vivo Perturb-seq

The brain is often referred to as a "black box"-;one that's difficult to peer inside and determine what's happening at any given moment.

21 May 2024

H5N1 Strain Shows Limited Airborne Transmission in Ferrets

The highly virulent H5N1 avian influenza was initially found in dairy cattle in the United States in March, and by May, outbreaks had been reported from nine states. The research was published in the journal Nature Communications.

16 May 2024

Glycosylation and its Role in Human Health and Disease

The current understanding of glycosylation genetics in mammals and the consequences of mutations that impact glycosylation.

16 May 2024

Rice Study Sheds Light on Pseudogene Dynamics

Rice University's Peter Wolynes and his research team have unveiled a breakthrough in understanding how specific genetic sequences, known as pseudogenes, evolve.

14 May 2024

Researchers Uncover New Genetic Mutation Linked to Rare Form of Congenital Thyroid Abnormality

A team of researchers from the University of Chicago, in collaboration with the Free University of Brussels and the University of Washington, have uncovered a genetic mutation in a non-coding region of DNA that alters the regulation of the thyroid, leading to a rare form of congenital thyroid abnormality.

9 May 2024