Tag Archives: genes

Discover How Genes Connect Intestinal Motility to Vitamin B1: An Unexpected Nutrient Link

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In a groundbreaking study analyzing data from over 268,000 individuals, researchers have identified that genes associated with thiamine (vitamin B1) metabolism significantly influence intestinal motility. This discovery paves the way for personalized treatments targeting conditions like constipation and irritable bowel syndrome (IBS).

Diaz Muñoz et al. identified key mechanisms involved in intestinal motility, including an overlooked role for vitamin B1. Image credit: Hillman et al., doi: 10.1264/jsme2.ME17017 / CC BY 4.0.

Gastrointestinal motility is crucial for food digestion, nutrient absorption, and waste elimination, all critical components of human health and well-being.

The regulation of motility depends on a multifaceted communication network, which encompasses the gut-brain axis, the immune system, gut microbiota, and is affected by external influences such as diet, physical activity, and medications.

Disruptions in motility control and peristalsis can lead to significant health issues, including IBS and chronic idiopathic intestinal pseudoobstruction, highlighting the importance of understanding these conditions.

In this recent study, Professor Mauro D’Amato from LUM University, CIC bioGUNE-BRTA, and Ikerbasque, along with his colleagues, employed a large-scale genetic approach to identify common DNA variations linked to intestinal motility.

The research utilized questionnaires and genetic data from 268,606 individuals of European and East Asian ancestry, applying computational analysis to pinpoint relevant genes and mechanisms.

The team discovered 21 genomic regions that affect defecation frequency, including 10 previously unknown regions, affirming the biologically plausible pathways involved in intestinal motility regulation.

For instance, they found significant correlations with bile acid regulation, which aids fat digestion and serves as signaling molecules in the intestines, along with neural signaling pathways crucial for intestinal muscle contractions (especially acetylcholine-related signaling).

However, the most striking outcome arose when the researchers pinpointed two high-priority genes focused on vitamin B1 biology, specifically those involved in the transport and activation of thiamine: SLC35F3 and XPR1.

To validate the relevance of the vitamin B1 signal, they further examined dietary data from the UK Biobank.

A study involving 98,449 participants revealed that increased dietary thiamine intake correlated with more frequent bowel movements.

Crucially, the relationship between thiamine consumption and bowel frequency exhibited variations based on genetic factors, specifically the combined genetic score of SLC35F3 and XPR1.

This suggests that genetic variations in thiamine metabolism may impact how vitamin B1 intake affects bowel habits in the general population.

“By utilizing genetic data, we’ve created a roadmap for the biological pathways influencing intestinal pace,” said Dr. Cristian Díaz Muñoz from CIC bioGUNE-BRTA.

“The data strongly highlights vitamin B1 metabolism alongside established mechanisms like bile acids and neural signaling.”

This research also confirms a significant biological link between bowel frequency and IBS, a widespread condition affecting millions globally.

“Issues with intestinal motility are at the core of irritable bowel syndrome, constipation, and other common motility disorders, yet the underlying biology remains challenging to decipher,” noted Professor D’Amato.

“These genetic findings point to specific pathways, particularly those involving vitamin B1, as vital areas for further research, including laboratory experiments and meticulously designed clinical trials.”

For more details, refer to the study published in the Journal on January 20, 2026.

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C. Diaz Muñoz et al. Genetic analysis of defecation frequency suggests a link to vitamin B1 metabolism and other pathways regulating intestinal motility. Intestine published online January 20, 2026. doi: 10.1136/gutjnl-2025-337059

Source: www.sci.news

Should Scientists Have the Authority to Edit Animal Genes? Some Conservation Groups Say Yes

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“The technology has arrived and is currently unfolding,” stated Susan Lieberman, vice president of international policy at the Wildlife Conservation Society. “There may be instances where genetically modified organisms can be cautiously and ethically tested and introduced into natural environments.”

He remarked that the new framework represents a “transformative advancement” that may enable conservationists to explore innovative solutions to climate change challenges and to assess new methods for disease control.

The IUCN consists of a vast coalition of conservation organizations, governments, and indigenous communities, boasting over 1,400 members from roughly 160 nations, convening once every four years. It stands as the globe’s largest network of environmental organizations and is responsible for the Red List, which monitors endangered species and global biodiversity.

This year’s conference took place in Abu Dhabi, where the vote favoring “synthetic biology” established a new framework for assessing genetic engineering initiatives and their potential implementation. This measure mandates that scientists evaluate such projects on an individual basis, maintain transparency regarding the associated risks and benefits, and adhere to precautionary principles relating to genetic engineering. This applies to a spectrum of organisms, including animals, plants, yeast, and bacteria.

Another proposal, which aimed to suspend the release of genetically modified organisms into the environment, failed by a narrow margin of one vote.

Jessica Owley, a professor and director of the environmental law program at the University of Miami, noted that while the IUCN decision lacks legal force, it carries symbolic importance and could influence international policy.

“IUCN is a powerful and recognized entity in the conservation field. Their word holds weight, and governments pay attention. They play a significant role in various treaties,” she commented. “This can be viewed as groundwork for future legal language.”

Organizations advocating for a moratorium on the release of genetically modified organisms into the wild argue that there is insufficient evidence to prove it can be done safely and responsibly.

“We’re disappointed,” stated Dana Perls, senior food and agriculture program manager at the nonprofit Friends of the Earth. “Our focus should be on confined research that doesn’t turn our environment into a live experimental lab.”

As a potential example, she cited: genetically modifying mosquitoes to combat the malaria-causing parasite. The disease claims over 500,000 lives annually, prompting scientists to propose spreading this malaria resistance across broader mosquito populations through a method known as genetic drive.

Source: www.nbcnews.com

Scientists use genes from pre-animal choanoflagellates to recreate mice

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Scientists at Queen Mary University of London and the University of Hong Kong have utilized genetic tools from single-celled organisms that share a common ancestor with animals to create mouse stem cells capable of producing fully developed mice.

Choanoflagellate Sox can induce pluripotency in mammalian cells. Image credit: Gao others., doi: 10.1038/s41467-024-54152-x.

Alex de Mendoza, a researcher at Queen Mary University of London, and his colleagues used genes found in choanoflagellates, single-celled organisms related to animals, to create stem cells that were then employed in giving birth to living, breathing mice.

Choanoflagellates are the closest living relatives of animals, housing genes in their genomes that support pluripotency in mammalian stem cells, including versions of Sox and POU.

This surprising discovery challenges the notion that these genes only evolved within animals.

“With the successful creation of mice using molecular tools derived from our single-celled relatives, we are witnessing an incredible continuity of function spanning nearly a billion years of evolution,” Dr. Mendoza stated.

“This research suggests that crucial genes involved in stem cell formation may have originated well before the stem cells themselves, potentially paving the way for the multicellular life we observe today,” he added.

Shinya Yamanaka, who won the Nobel Prize in 2012 for demonstrating the obtainment of stem cells from differentiated cells by expressing factors such as Sox (Sox2) and POU (Oct4) genes, highlighted the significance of the study.

In their research, Dr. de Mendoza and co-authors incorporated the choanoflagellate Sox gene into mouse cells, leading to reprogramming into a pluripotent stem cell state.

These reprogrammed cells were then injected into developing mouse embryos to assess their efficacy.

The resulting chimeric mice displayed physical attributes from both donor embryos and laboratory-derived stem cells, highlighting the essential role these ancient genes play in shaping animal development.

This study showcases how early versions of the Sox and POU proteins, known for binding to DNA and regulating other genes, were utilized by unicellular ancestors for functions critical to stem cell development and animal growth.

“Despite choanoflagellates lacking stem cells and being unicellular organisms, they possess these genes, likely governing fundamental cellular processes that multicellular animals later repurposed to construct intricate bodies,” Dr. Mendoza explained.

“This newfound insight underscores the evolutionary adaptability of genetic tools and how early life forms employed similar mechanisms for controlling cell production, even before the emergence of truly multicellular organisms,” he concluded.

“This discovery goes beyond evolutionary biology and could lead to innovative advancements in regenerative medicine.”

A paper detailing the study findings was published in Nature Communications.

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Y. Gao others. 2024. The appearance of Sox and POU transcription factors predates the origin of animal stem cells. Nature Communications 15, 9868;doi: 10.1038/s41467-024-54152-x

This article is based on a press release provided by Queen Mary University of London.

Source: www.sci.news

More than 100 genes that set humans apart

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Researchers at the University of Toronto have discovered more than 100 uniquely evolved genes in the human brain, providing insight into human cognitive abilities. This study, using single-cell analysis, contributes to the Human Cell Atlas and provides new perspectives on brain evolution and associated diseases.

The researchers discovered 139 genes that are common across primate groups, but whose expression differs greatly in the human brain.

An international team led by researchers at the University of Toronto has discovered more than 100 genes that are common in primate brains but whose evolutionary divergence only occurred in humans. These genes may be the source of our unique cognitive abilities.

Researchers led by Associate Professor Jesse Gillis from the Donnelly Center for Cellular and Biomolecular Research and the Department of Physiology at Temerty University School of Medicine found that genes are expressed differently in the human brain compared to four of our relatives, including the chimpanzee, gorilla, macaque, and marmoset.

The survey results are natural ecology and evolution, suggesting that reduced selective pressure, or resistance to loss-of-function mutations, may have enabled the gene to acquire higher levels of cognitive ability. This research is part of the Human Cell Atlas, a global effort to map every human cell to better understand health and disease.

Comparative study of primate brains

“This study not only contributes to our understanding of brain differences between humans and other primates at a cellular level, but also creates a database that can be used to further characterize genetic similarities and differences between primates. I did,” Gillis said.

A team including researchers from the Cold Spring Harbor Laboratory and the Allen Institute for Brain Science in the US created brain maps for each primate. seed It is based on single-cell analysis, a relatively new technology that allows for more specific gene sequencing than standard methods. They used the BRAIN Initiative Cell Census Network (BICCN) dataset, which was created from samples taken from the middle temporal gyrus of the brain.

Insights into cognitive evolution

In total, the researchers discovered 139 genes that are common across primate groups but are expressed very differently in the human brain. These genes exhibit a strong ability to tolerate mutations without affecting function, suggesting that they may have evolved under more relaxed selective pressures.

“Genes that diverge within humans must endure change,” says Hamsini Suresh, lead author of the study and a researcher at the Donnelly Center. “This appears to be a resistance to loss-of-function mutations, enabling rapid evolutionary changes in the human brain.”

Our advanced cognitive functions may be the result of human brain cells adaptively evolving into a number of less threatening mutations over time. It is also noteworthy that about a quarter of the human divergent genes identified in this study are associated with various brain diseases.

Brain cell types and gene expression

The diverse genes the researchers identified are present in 57 types of brain cells, grouped by inhibitory neurons, excitatory neurons, and non-neurons. A quarter of the genes were differentially expressed only within nerve cells, also known as gray matter, and half were differentially expressed only within glial cells, which are white matter.

The gray matter of the brain is made up of neurons, while the white matter is made up of other types of cells, such as those responsible for blood vessel structures and immune function.

Expanding the human cell atlas

This research is part of BICCN’s efforts to identify and catalog the diverse cell types in the brains of humans and other species. In 2021, the consortium published in Nature a comprehensive survey of cell types in the primary motor cortex of mice, monkeys, and humans. This effort is to shed light on the evolution of the brain by studying neurotransmission and communication at the highest resolution.

Evolution and disease research

“There are approximately 570,000 cells in the Interprimate Single Cell Atlas of the Middle Temporal Gyrus,” Suresh said. “Defining a catalog of shared cell types in this region of the brain provides a framework for investigating the conservation and divergence of cellular architecture across primate evolution.” , we can study evolution and disease in a more targeted way.”

Reference: “Comparative analysis of single-cell transcriptomes in primate brains reveals human-specific regulatory evolution” Hamsini Suresh, Megan Crow, Nikolas Jorstad, Rebecca Hodge, Ed Lein, Alexander Dobin, Trygve Bakken , by Jesse Gillis, September 4, 2023, natural ecology and evolution.
DOI: 10.1038/s41559-023-02186-7

This research was supported by the U.S. National Institutes of Health U.S. National Research Alliance on Schizophrenia and Depression.

Source: scitechdaily.com