Tag:

Gene

New Tool Pinpoints Genes for Heart and Metabolic Diseases

by Dr. Michael Lee – Health Editor July 16, 2025

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*.

July 16, 2025 0 comments

Health

Vitamin C is the secret for stronger and stronger skin

by Dr. Michael Lee – Health Editor July 9, 2025

written by Dr. Michael Lee – Health Editor

A Japanese study explains how vitamin C can rejuvenate the skin

Table of Contents

A Japanese study explains how vitamin C can rejuvenate the skin
The secret of vitamin C for the skin
c as a key

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 “.

July 9, 2025 0 comments

Technology

Understanding the human brain architecture through gene coexpression analysis

by Rachel Kim – Technology Editor July 8, 2025

written by Rachel Kim – Technology Editor

Neuroscientist Unlocks Brain’s Secrets Through Gene Analysis

From advertising to academia, Michael Oldham’s journey reveals key insights into brain tumors and data reproducibility.

After a career pivot from advertising, computational neuroscientist Michael C. Oldham is transforming our understanding of the human brain’s intricate architecture using gene coexpression analysis. His innovative work offers potential breakthroughs in treating malignant gliomas and improving data reproducibility.

An Unlikely Path to Neuroscience

After initially planning a medical career, Dr. Oldham, a Duke University graduate, realized treating patients wasn’t his true calling. After a period in San Francisco’s advertising world, he returned to academia driven by a desire to understand the genetic factors differentiating human brains.

“The genetic changes that gave rise to the modern human brain were the catalyst for life as we know it,” Dr. Oldham said. This question led him to a PhD at UCLA, setting the stage for his groundbreaking contributions.

Pioneering Gene Coexpression Analysis

Working alongside **Dr. Dan Geschwind** at UCLA and biostatistician **Dr. Steve Horvath**, **Dr. Oldham** conducted an unprecedented genome-wide analysis of transcriptional covariation within the human brain. His key insight was that recurring patterns of gene activity mirrored the transcriptional signatures of different cell types.

Published in Nature Neuroscience in 2008, his work demonstrated how gene coexpression analysis could pinpoint optimal markers for cell types and states. This principle remains central to his lab’s research at UCSF.

Weighted Gene Coexpression Network Analysis (WGCNA), the method he developed, has become crucial in genomics research. The approach identifies coordinated gene activity patterns within biological systems, making it invaluable for studying complex tissues like the brain. Current analysis utilizes AI to analyze complex patterns, in line with global trends (Nature, 2023).

From Evolution to Tumors

Dr. Oldham’s early research focused on gene activity patterns in human and other species’ brains. He identified gene expression changes in human radial glia, interneurons and astrocytes. More recently, his focus has shifted to malignant gliomas, applying his computational expertise to these challenging brain tumors as part of UCSF’s Neurological Surgery department.

His team has analyzed gene activity patterns from over 17,000 human brain samples, leading to OMICON (theomicon.ucsf.edu), a platform providing access to gene activity patterns in complex datasets. The resource offers researchers insights into brain function and dysfunction.

Targeting Gliomas

By comparing gene activity patterns between healthy brains and malignant gliomas, Dr. Oldham‘s team is identifying molecular changes in glioma microenvironment cell types, like vascular cells and neurons. These signatures may lead to novel biomarkers and targeted treatments, using cell-surface markers of glioma vasculature as a potential “zip code” for bloodstream targeting.

Addressing the Reproducibility Crisis

Dr. Oldham has also turned his attention to science’s reproducibility crisis. As Vice Chair of UCSF’s Academic Senate Committee on Library and Scholarly Communication, he launched a task force on research data and metadata standardization.

“If most of the findings we toil to produce cannot feasibly be reproduced, what is the point? he asks, underlining the need for more open and reproducible science.

“Although there are many factors that affect the reproducibility of published research findings, there is no reason in principle why data analysis should not be completely reproducible,” Dr. Oldham stated, advocating for standardized data packaging to accelerate data discovery and analysis.

Personal Reflections

The interview also reveals the human side of Dr. Oldham’s scientific journey. His choice to spend two extra years in graduate school, considered unconventional at the time, led to a significant paper that secured his UCSF Sandler Faculty Fellowship.

Outside of neuroscience, Dr. Oldham enjoys hiking in Marin County and maintains friendships from his advertising days, living by the motto: “ABC (always be celebrating!).”

Looking ahead, Dr. Oldham emphasizes integrating multiscale and multimodal data and using robotic automation to generate reproducible datasets. He also advocates for shifting from descriptive to predictive analysis using statistical models.

“There is a big difference between describing what you think a dataset means versus predicting what you will see in the next dataset,” he concludes.

July 8, 2025 0 comments

Health

Salivary enzyme levels rise with gene variation in diabetics

by Dr. Michael Lee – Health Editor July 8, 2025

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.

July 8, 2025 0 comments

Health

Restoring neuron balance in the amygdala reverses anxiety in mice

by Dr. Michael Lee – Health Editor July 4, 2025

written by Dr. Michael Lee – Health Editor

Amygdala Neurons Linked to Anxiety, Depression

Restoring neuronal balance reverses pathological behaviors in mice.

New research pinpoints a specific group of neurons in the amygdala, a brain region responsible for emotion regulation, as critical in conditions like anxiety and depression. The study reveals that re-establishing equilibrium in this area can reverse these behaviors.

Key Discovery in Amygdala Function

The team led by Juan Lerma at the Institute for Neurosciences (IN) discovered that targeted manipulation of neurons within the amygdala could mitigate symptoms of anxiety and social withdrawal in mice. The amygdala is already known to contribute significantly to emotional responses, but this study defines how specific neurons influence such behaviors.

“We already knew the amygdala was involved in anxiety and fear, but now we’ve identified a specific population of neurons whose imbalanced activity alone is sufficient to trigger pathological behaviors.”

—Juan Lerma, Institute for Neurosciences (IN)

Experimental Design and Results

Researchers utilized genetically modified mice with overexpression of the Grik4 gene, which increased glutamate receptors and elevated neuronal excitability. These mice exhibited behaviors associated with anxiety and social deficits mirroring those seen in autism or schizophrenia.

By normalizing the gene expression in the basolateral amygdala, the scientists re-established communication with inhibitory neurons in the centrolateral amygdala. Álvaro García, the study’s first author, noted the impact of this adjustment.

According to the Anxiety & Depression Association of America, anxiety disorders affect 31.1% of adults in the United States at some point in their lives (ADAA).

Reversal of Anxious Behaviors

Electrophysiological techniques and behavioral tests were administered to assess anxiety, depression, and social interactions in the rodents. Following this, genetic engineering and modified viruses were used to selectively correct alterations in the basolateral amygdala, yielding notable changes in both neuronal activity and behavior.

The team also tested these procedures on wild-type mice that showed inherent anxiety; the treatment was also effective in reducing their anxiety. Lerma suggests this may represent a general principle for emotion regulation in the brain.

Future Therapeutic Applications

While some cognitive functions like object recognition memory remained uncorrected, potentially involving other brain areas such as the hippocampus, the study highlights possibilities for new therapies. According to Lerma, targeting specific neural circuits could offer a localized strategy for treating affective disorders.

July 4, 2025 0 comments

Health

Gene Therapy May Lower Stroke Risk in Sickle Cell Patients

by Dr. Michael Lee – Health Editor June 30, 2025

written by Dr. Michael Lee – Health Editor

gene Therapy Shows Promise in Reducing Stroke Risk for Sickle Cell Disease Patients

Memphis,TN – June 30,2025 – A groundbreaking new study from St. Jude Children’s Research Hospital suggests gene therapy could significantly reduce stroke risk in patients with sickle cell disease.The research, published today in the American Journal of Hematology, focuses on improving a key factor contributing to stroke: inadequate oxygen delivery to the brain.

Many individuals with sickle cell disease experience brain ischemia – a condition

June 30, 2025 0 comments

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