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New Tool Pinpoints Genes for Heart and Metabolic Diseases

by Dr. Michael Lee – Health Editor
written by Dr. Michael Lee – Health Editor

This article discusses a new computational tool developed by researchers at Case Western Reserve University that aims to improve the identification of genes and genetic changes responsible for diseases.

Here’s a breakdown of the key points:

The Problem: Existing methods like genome-wide association studies (GWAS) can identify DNA regions linked to diseases, but pinpointing the exact gene or genetic change is difficult due to overlapping genes and indirect effects (like turning genes on/off).
 The Solution: The researchers created a tool called TGVIS (Tissue-Gene pairs, direct casual Variants, and Infinitesimal Effects Selector).
How TGVIS Works: It combines data from GWAS with other biological information,such as how DNA instructions are used to create proteins and molecules. Advanced mathematical and computational calculations merge this data to identify causal genes and DNA changes.
 Focus of the Study: The initial request of TGVIS was on cardiometabolic health, focusing on 45 traits related to the heart and metabolism, using genomic data from 31 diffrent body tissues.
Key Findings: TGVIS helped identify new genes that were previously overlooked, expanding the understanding of the genetic basis of diseases.
 Potential Impact: This new approach could lead to earlier detection and treatment of cardiometabolic diseases. The method is also adaptable to studying other diseases like breast cancer, Alzheimer’s disease, and cardiovascular diseases, making research more efficient and focused.
publication: The findings were published in the journal Nature Communications*.

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Health

Microplastics found to trigger cancer-linked changes in lung cells

by Dr. Michael Lee – Health Editor
written by Dr. Michael Lee – Health Editor

Microplastics Spur Cancerous Changes in Lung Cells

New study reveals alarming impact of everyday plastics on healthy lung tissue

Tiny plastic particles, a pervasive environmental contaminant, have been found to induce potentially cancerous transformations in healthy lung cells, according to groundbreaking research from MedUni Vienna. This discovery highlights a significant, previously under-recognized health risk associated with microplastics and nanoplastics (MNPs).

Harmful Effects on Healthy Lung Tissue

Researchers meticulously examined the interaction between polystyrene micro- and nanoplastics (PS-MNPs), commonly found in items like food packaging and disposable cups, and various types of lung cells. Surprisingly, the study found that healthy lung cells absorbed smaller PS-MNPs more readily than malignant cancer cells. This absorption triggered concerning biological responses.

After exposure, healthy cells exhibited increased migration, DNA damage, oxidative stress, and the activation of growth-promoting signaling pathways. These are all considered early indicators of cancer development.

“Particularly striking was the reduced ability of healthy cells to repair DNA damage and the simultaneous activation of certain signalling pathways that normally promote cell growth,” stated study leader Karin Schelch.

Early Warning Signs of Cancer

While lung cancer cells appeared less affected by short-term exposure, the impact on healthy cells is a cause for significant concern. These cellular changes suggest a potential pathway from plastic exposure to chronic lung disease and cancer.

The data now available provide initial indications that healthy lung cells in particular react in a way that gives cause for concern.

—Balazs Döme, Co-Study Leader

The research also noted that the cells’ defense mechanisms were activated, indicating a struggle against the stress induced by the plastic particles. “We observed the activation of antioxidant defence systems – an indication that the cells are actively defending themselves against the stress caused by plastic particles,” explained first author Büsra Ernhofer.

The findings underscore the urgent need to address plastic waste and its broader health implications. The long-term consequences of MNP exposure on lung health require immediate and thorough investigation, highlighting the critical intersection of environmental medicine and cancer biology.

A recent report from the World Health Organization estimates that individuals can inhale up to 15,000 plastic particles per day from the air alone (WHO, 2022). This new research provides a critical piece in understanding the biological impact of this pervasive inhalation.

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Health

Ancient DNA: Causes of New Diseases Revealed by Studying Human History

by Dr. Michael Lee – Health Editor
written by Dr. Michael Lee – Health Editor

Ancient DNA reveals 37,000 Years of Human Disease History

London – More than 37,000 years of infectious diseases in humans have been mapped by scientists, with academics pointing to one particular behavior from our ancestors as playing a “key role” in their spread.

Involving researchers from various universities in the UK, Denmark, Sweden, Germany, Italy, and Australia, this study involved DNA analysis of more than 1,300 prehistoric humans dating back 37,000 years. The research also included DNA recovery related to 214 known pathogens, including bacteria, viruses, and parasites.

Academics discovered the oldest genetic traces of the bacteria that cause plague, yersinia pestis, in a 5,500-year-old sample. They also found traces of leprosy from 1,400 years ago, malaria from 4,200 years ago, hepatitis B from 9,800 years ago, and diphtheria from 11,100 years

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Health

Vitamin C is the secret for stronger and stronger skin

by Dr. Michael Lee – Health Editor
written by Dr. Michael Lee – Health Editor

A Japanese study explains how vitamin C can rejuvenate the skin

Table of Contents

Eu.Spa.

July 9 – 12:02 – MILANO

Look in the mirror and note that The skin is no longer what it once was. He thinned, loses tone, becomes fragile like tissue paper. It is the price of aging, you know. The epidermis that for years has protected us from the outside world begins to yield, layer after layer. But if there was a way to awaken its ability to regenerate?

Al Tokyo Metropolitan Institute for Geriatrics and Gerontologya group of researchers led by Akihito Ishigami investigated the dermatological benefits of Vitamina Ca substance whose positive effect on the skin was, in reality, already known: “Vitamin C would seem to influence the structure and function of the epidermis, in particular by controlling cell growth”, explains Ishigami. “But in this study, we have investigated if it is also able to promote proliferation and cell differentiation through epigenetic changes“.

The secret of vitamin C for the skin

—

For years we have known that our genes can be turned on or off, as switches. And aging tends to turn off several. To understand what happens to the epidermis, over time, the researchers have recreated human skin in the laboratory, applying vitamin C in the same concentrations circulating in the blood. The discovery was that after a week the treated skin showed a visibly more often layer And the Ki-67 marker, which reports when the cells are dividing, had increased significantly. On the fourteenth day the effect was even more evident: the internal layer of the epidermis continued to be thickened while the external one thinned. As if the skin had found the production rhythm of youth.

But how does vitamin C get these results? According to the researchers, during aging, small chemical groups called methyls attach themselves to the DNA as the padlocks that block access to entire sections of our genetic code. Vitamin C, in essence, removes these padlocks through a process called demethmentationsupporting special enzymes, the tets (ten-connoisseur translocation), which do dirty work. These enzymes, however, need iron to work, and here is the makeup: during the reaction the iron oxidizes, passing from Fe2+ to Fe3+, and stops working. Vitamin C intervenes by giving electrons and regenerating iron. A bit like supplying petrol an engine that would otherwise stop.

c as a key

—

The study identified beyond 10,000 DNA regions that would thus “unlock” by vitamin C and 12 fundamental genes for cell proliferation that increase their activity from 1.6 up to 75 times. To be sure of their discovery, scientists also made the counter -proof: by blocking the tet enzymes with a specific inhibitor, all the beneficial effects of vitamin C disappeared. The skin returned to behave like the aged one. Which would show that they are right and bodes well for the development of future care: “Vitamin C helps to inspected the skin By stimulating the proliferation of keratinocytes through the demethment of DNA “, summarizes Ishigami.” And this could make it a promising treatment For the skin that begins to thin, especially in the elderly “.

© RESERVED REPRODUCTION



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Health

Salivary enzyme levels rise with gene variation in diabetics

by Dr. Michael Lee – Health Editor
written by Dr. Michael Lee – Health Editor

Gene Variation Drives Up Salivary Enzymes in Diabetics

New research indicates a common genetic variation can significantly increase salivary enzyme production, particularly in individuals with diabetes, suggesting a potential biological connection between starch digestion and blood sugar control.

The Role of AMY1 Gene Copy Number

Variations in copy number (CN) signify differences in the number of copies of a specific DNA sequence among individuals. Affecting approximately 10% of the human genome, these variants influence gene expression, thus contributing to varying physical traits and disease susceptibility.

One prevalent CNV involves the AMY1 gene, responsible for encoding salivary amylase, an enzyme that initiates starch breakdown in the oral cavity. In humans, the diploid AMY1 CN spans from 2 to 20, potentially impacting an individual’s metabolic profile.

Study Design and Participant Demographics

The research featured two groups: healthy adults participating in a starch study and individuals aged 45 and older with self-reported prediabetes or type 2 diabetes from a T2D microbiome study. Participants were recruited from the Ithaca, USA area.

Salivary enzyme levels rise with gene variation in diabetics

Saliva samples from 196 participants were analyzed to ascertain AMY1 CN, while samples from a subset of 94 participants were used to measure SAA. Genomic DNA was extracted from saliva to measure AMY1 CN using qPCR and ddPCR techniques.

Key Findings: AMY1 CN and SAA

The median AMY1 CN, as determined by qPCR, was 7.5 (ranging from 2 to 19 copies) and by ddPCR, it was 7.0 (ranging from 2 to 20 copies). A linear mixed model revealed that SAA levels increased as the day progressed, which aligns with previous findings indicating a surge in SAA from morning to midday.

Interestingly, the study found that AMY1 CN could independently account for 18% of the variance in SAA. Researchers suggest that other biological or unexamined factors may contribute to the variance in SAA.

Association with Type 2 Diabetes

A noteworthy association emerged between AMY1 CN and T2D/prediabetes status. For each additional copy of AMY1, SAA increased by nearly 14% in the control group and 43% in the T2D/prediabetes group.

According to the CDC, in 2019, 37.3 million US adults had diabetes; 28.3 million were diagnosed, and 9.0 million were undiagnosed (CDC 2020).

Implications and Future Research

The researchers propose that higher SAA levels might either alleviate or exacerbate glucose dysregulation in individuals with T2D, but emphasize the necessity for longitudinal studies to establish the directionality of this relationship.

Furthermore, the study underscores the importance of consistent saliva collection timing for accurate SAA interpretation as a biomarker, given its natural daily fluctuations.

Conclusions and Considerations

While both qPCR and ddPCR methods proved effective in measuring AMY1 CN, caution is advised when drawing causal inferences due to the study’s cross-sectional design and limited number of participants with T2D/prediabetes.

Ultimately, further investigation is warranted to fully elucidate the role of SAA in glucose homeostasis and its potential health applications. Future studies should prioritize the timing of saliva collection, dietary context, and other relevant factors in establishing SAA as a reliable health biomarker.

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Technology

First-ever chromosome-level genome assembly of a sea spider

by Rachel Kim – Technology Editor
written by Rachel Kim – Technology Editor

Sea Spider Genome Reveals Secrets of Body Plan

Genetic study offers insights into evolution of chelicerates.

A newly completed genome of the sea spider *Pycnogonum litorale* is providing clues to the unusual body structure of these marine animals and the evolution of chelicerates. These creatures have reduced abdomens and legs so long that organs extend into them.

Key Development

Researchers from the University of Vienna and the University of Wisconsin-Madison successfully assembled the first chromosome-level genome of the sea spider. This breakthrough explains the species’ body structure and offers insights into the evolution of chelicerates, including spiders, scorpions, and horseshoe crabs.

The team combined long-read sequencing with data on DNA arrangement to build 57 pseudochromosomes, covering the genome with high precision. They also included data on gene activity across different developmental stages. The scientists focused on the Hox cluster, a gene family that defines body segments.

Missing Gene

Scientists discovered that *Pycnogonum litorale* lacks a key Hox gene called abdominal-A (Abd-A), responsible for shaping the rear end of arthropods. Its absence may explain why sea spiders have extremely reduced abdomens.

This supports an evolutionary pattern: when certain Hox genes disappear, the body parts they control often shrink or vanish. Sea spiders now join the list of species showing this gene-body connection. The research was published in BMC Biology.

Unlike spiders and scorpions, *P. litorale* shows no signs of ancient whole-genome duplications. Since sea spiders are considered the sister group to all other chelicerates, this suggests that genome duplications occurred later, in specific subgroups.

Implications

The completed genome of *P. litorale* gives scientists a powerful tool for comparing chelicerate species and studying the evolution of their body plans. According to a 2023 study, understanding the genetic basis of body plans can inform conservation efforts by highlighting unique evolutionary lineages (Nature Scientific Reports).

Sea spiders stand out because:

  • Their development may reflect how early arthropods grew.
  • They have unique body features not seen in other species.
  • They can regenerate parts of their body.

With the genome and gene activity data now available, researchers like Georg Brenneis can explore these traits in detail at the molecular level.

The study is referenced in BMC Biology 23, 196 (2025). DOI: 10.1186/s12915-025-02276-x

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