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Category: genetics – Page 6

Palm-sized device detects disease markers in under 45 minutes without additional lab equipment

Scientists from the National University of Singapore (NUS) have developed NAPTUNE (Nucleic Acids and Protein biomarkers Testing via Ultra-sensitive Nucleases Escalation), a point-of-care assay that identifies trace amounts of disease-related genetic material, including nucleic acid and protein markers, in less than 45 minutes. Importantly, it accomplished this without the need for laboratory equipment or complex procedures.

Lying at the heart of many modern diagnostics, (PCR) and real-time immunoassays provide high accuracy. However, they are hindered by lengthy processing time, the need for specialized thermal cyclers and skilled personnel. These constraints hamper rapid outbreak management, early cancer screening and bedside decision-making, especially in low-resource settings.

NAPTUNE tackles these challenges by replacing bulky amplification steps with a tandem nuclease cascade that converts biological signals directly into readily detectable DNA fragments, streamlining the diagnostic process.

Study reveals ‘switch-like’ behavior for hundreds of genes with links to human disease

Gene expression, where cells use the genetic information encoded in DNA to produce proteins, has been thought of as a dimmer light.

How much a particular gene gets expressed continually rises and falls, depending on the needs of a cell at any given time. It’s like adjusting the lighting of a room until it’s just right for your mood.

But University at Buffalo researchers have shown that a considerable portion of a human’s roughly 20,000 genes express more like your standard light switch—fully on or fully off.

DNA ‘glue’ could help prevent and treat diseases triggered by ageing

Macquarie University researchers have discovered a naturally occurring protein found in human cells plays a powerful role in repairing damaged DNA — the molecule that carries the genetic instructions for building and maintaining living things.

The discovery, published in the journal Ageing Cell, could hold the key to developing therapies for devastating age-related diseases such as motor neuron disease (MND), Alzheimer’s disease, and Parkinson’s disease.

Hope: Dr Sina Shadfar, pictured, and colleagues discovered a protein which they have shown for the first time acts like a ‘glue’, helping to repair broken DNA, which is widely accepted as one of the main contributors to ageing and the progression of age-related diseases.

The research, conducted by neurobiologist Dr Sina Shadfar and colleagues in the Motor Neuron Disease Research Centre, reveals a protein called protein disulphide isomerase (PDI) helps repair serious deoxyribonucleic acid (DNA) damage. This breakthrough opens new possibilities for therapies aimed at boosting the body’s ability to fix its own DNA — a process that becomes less efficient as we age.

Tree-shrew study finds specific brain circuit linking nighttime light exposure and depression

A new study published in Proceedings of the National Academy of Sciences reveals that chronic exposure to artificial light at night (LAN) can trigger depression-like behaviors by activating a specific neural pathway in the brain.

The study, conducted on tree shrews—diurnal mammals genetically close to primates that are active during the day like humans—offers critical insights into how nighttime light may disrupt mood regulation, potentially affecting human mental health in increasingly illuminated urban environments.

The research team, led by Prof. Xue Tian from the University of Science and Technology of China (USTC), Prof. Yao Yonggang of the Kunming Institute of Zoology of the Chinese Academy of Sciences (CAS), and Prof. Zhao Huan of Hefei University, exposed tree shrews to blue light (comparable to bright indoor lighting) for two hours each night for three weeks.

Molecular markers found to influence meat quality in Nelore cattle

Researchers at São Paulo State University (UNESP) in Brazil have identified a robust set of genetic markers associated with meat quality in the Nelore cattle breed (Bos taurus indicus) genome. The results pave the way for substantial progress in the genetic enhancement of the Zebu breed, which accounts for about 80% of the Brazilian beef herd.

The research has direct implications for the productivity and quality of Brazilian beef, reinforcing the country’s standing as a major beef exporter. The results are published in the journal Scientific Reports.

In previous studies, the group had identified genes and proteins by studying meat and carcass characteristics separately using different techniques. For the current study, however, the researchers integrated these techniques and examined multiple characteristics using data from 6,910 young Nelore bulls from four commercial genetic improvement programs.

Mushrooms Are Associated With A Younger Biological Age

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Scientists can now target the cells at the center of ALS

ALS is a cruel disease. It robs the body of its ability to control itself—the ability to move, the ability to communicate. While there are currently no effective treatments to reverse its debilitating symptoms, Allen Institute researchers have opened a window of hope.

For the first time ever, scientists have developed a precise genetic toolkit that can target the exact nerve cells destroyed by the disease and potentially deliver therapies where they are needed most—a discovery that could dramatically speed up the quest for a cure. The findings were recently published in the journal Cell Reports.

Amyotrophic lateral sclerosis (ALS) is a progressive and devastating disease that gradually kills off motor neurons in the brain and spinal cord that control voluntary muscle movement. As these neurons die, people with ALS lose the ability to move, speak, and eventually breathe. Despite decades of research, there’s still no effective treatment or cure. Unlike many other brain cells, motor neurons in the spinal cord have been extremely hard to reach with genetic tools. This has slowed down research and made it hard to test new treatments in the cells that matter most.

Doctors Find They Can Detect Cancer in Blood Years Before Diagnosis

Researchers at Johns Hopkins University have discovered that cancer can be detected in the bloodstream a full three years before it’s spotted by doctors for an official diagnosis.

As detailed in a partially government-funded study published in the journal Cancer Discovery last month, the team found that genetic material being shed by cancer tumors can show up in the bloodstream far earlier than previously thought, paving the way for promising new cancer screening methods that could potentially head off the disease long before it gets more serious.

In some cases, the advanced detection could make the difference between being able to beat the cancer or not, according to the researchers.

New study decodes genetic influences on brain structure

A research team has identified genetic factors that influence the shape of subcortical brain regions—far beyond volume measurements. The results could open up new approaches for the early detection of neurological and mental disorders.

The large-scale study led by Forschungszentrum Jülich, Heinrich Heine University Düsseldorf, and Helmholtz Munich examined the genetic influences on the of certain brain regions. The researchers focused on 22 subcortical structures, including the cerebellum. For the analysis, they used data from around 20,000 healthy White-British UK Biobank participants.

The research is published in the journal Science Advances.

Advanced software uncovers elusive protein variants tied to genetic mutations

Scientists at UCLA and the University of Toronto have developed an advanced computational tool, called moPepGen, that helps identify previously invisible genetic mutations in proteins, unlocking new possibilities in cancer research and beyond.

The tool, described in Nature Biotechnology, will help understand how changes in our DNA affect proteins and ultimately contribute to cancer, neurodegenerative diseases, and other conditions. It provides a new way to create and to find treatment targets previously invisible to researchers.

Proteogenomics combines the study of genomics and proteomics to provide a comprehensive molecular profile of diseases. However, a major challenge has been the inability to accurately detect variant peptides, limiting the ability to identify at the protein level. Existing proteomic tools often fail to capture the full diversity of protein variations.