. Scientific Frontline: Biology
Showing posts with label Biology. Show all posts
Showing posts with label Biology. Show all posts

Friday, March 29, 2024

Risk factors for faster aging in the brain revealed in new study

Governments have been urged to act decisively before 2035 to ensure global warming can be kept below 2°C by 2100.
Photo Credit: Nöel Puebla

Researchers from the Nuffield Department of Clinical Neurosciences at the University of Oxford have used data from UK Biobank participants to reveal that diabetes, traffic-related air pollution and alcohol intake are the most harmful out of 15 modifiable risk factors for dementia.

The researchers had previously identified a ‘weak spot’ in the brain, which is a specific network of higher-order regions that not only develop later during adolescence, but also show earlier degeneration in old age. They showed that this brain network is also particularly vulnerable to schizophrenia and Alzheimer’s disease.

In this new study, published in Nature Communications, they investigated the genetic and modifiable influences on these fragile brain regions by looking at the brain scans of 40,000 UK Biobank participants aged over 45.

The researchers examined 161 risk factors for dementia, and ranked their impact on this vulnerable brain network, over and above the natural effects of age. They classified these so-called ‘modifiable’ risk factors − as they can potentially be changed throughout life to reduce the risk of dementia − into 15 broad categories: blood pressure, cholesterol, diabetes, weight, alcohol consumption, smoking, depressive mood, inflammation, pollution, hearing, sleep, socialization, diet, physical activity, and education.

Not unique to humans but uniquely human: researchers identify factor involved in brain expansion in humans

A microscopy image of a human brain organoid.
Image Credit: © Janine Hoffmann

What makes us human? According to neurobiologists it is our neocortex. This outer layer of the brain is rich in neurons and lets us do abstract thinking, create art, and speak complex languages. An international team led by Dr. Mareike Albert at the Center for Regenerative Therapies Dresden (CRTD) of TUD Dresden University of Technology has identified a new factor that might have contributed to neocortex expansion in humans. The results were published in the EMBO Journal.

The neocortex is the characteristic folded outer layer of the brain that resembles a walnut. It is responsible for higher cognitive functions such as abstract thinking, art, and language. “The neocortex is the most recently evolved part of the brain,” says Dr. Mareike Albert, research group leader at the CRTD. “All mammals have a neocortex, but it varies in size and complexity. Human and primate neocortices have folds while, for example, mice have a completely smooth neocortex, without any creases.”

The folds characteristic of the human brain increases the surface area of the neocortex. The human neocortex has a greater number of neurons that support complex cognitive functions.

The molecular mechanisms driving neocortex evolution are still largely unknown. “Which genes are responsible for inter-species differences in neocortex size? What factors have contributed to brain expansion in humans? Answering these questions is crucial to understanding human brain development and potentially addressing mental health disorders,” explains Dr. Albert.

Thursday, March 28, 2024

Researchers Identify Microbes That Help Plants Thwart Parasite

Sorghum crops in sub-Saharan Africa suffer heavy losses from the parasitic plant witchweed (Striga hermonthica). A new study shows how soil microbes can help protect sorghum from this pest and could be the basis for a soil probiotic treatment.
Photo Credit: Sabine

Bacteria that could help one of Africa’s staple crops resist a major pest have been identified by researchers at the University of California, Davis. Their findings, published in Cell Reports, could improve yields of sorghum, a mainstay of food and drink in West and East African countries.

About 20 percent of Africa’s sorghum crop is lost due to witchweed (Striga hermonthica), a parasitic plant that steals nutrients and water by latching onto the plant’s roots.

In a new study, UC Davis researchers show that soil microbes induce changes in sorghum roots that make the plant more resistant to infection by witchweed. They identified specific strains of bacteria that trigger these resistance traits and could be applied as a soil “probiotic” to improve sorghum yields in future.

“These microbes have great promise as soil additives that can help farmers grow sorghum successfully in sub-Saharan Africa,” said Siobhan Brady, a professor in the Department of Plant Biology and Genome Center and a senior author on the paper. 

Friday, March 22, 2024

Messenger RNAs with multiple “tails” could lead to more effective therapeutics

Graphic showing scientists adding "tails" to mRNA molecules
Illustration Credit: Catherine Boush, Broad Communications

Messenger RNA (mRNA) made its big leap into the public limelight during the pandemic, thanks to its cornerstone role in several COVID-19 vaccines. But mRNAs, which are genetic sequences that instruct the body to produce proteins, are also being developed as a new class of drugs. For mRNAs to have broad therapeutic uses, however, the molecules will need to last longer in the body than those that make up the COVID vaccines. 

Researchers from the Broad Institute of MIT and Harvard and MIT have engineered a new mRNA structure by adding multiple “tails” to the molecules that boosted mRNA activity levels in cells by 5 to 20 times. The team also showed that their multi-tailed mRNAs lasted 2 to 3 times longer in animals compared to unmodified mRNA, and when incorporated into a CRISPR gene-editing system, resulted in more efficient gene editing in mice. 

The new mRNAs, reported in Nature Biotechnology, could potentially be used to treat diseases that require long-lasting treatments that edit genes or replace faulty proteins. 

“The use of mRNA in COVID vaccines is fantastic, which prompted us to explore how we could expand the possible therapeutic applications for mRNA,” said Xiao Wang, senior author of the new paper, a core institute member at the Broad and an assistant professor of chemistry at MIT. “We’ve shown that non-natural structures can function so much better than naturally occurring ones. This research has given us a lot of confidence in our ability to modify mRNA molecules chemically and topologically.”

Two keys needed to crack three locks for better engineered blood vessels

Two proteins can trigger the signaling cascades needed to help differentiate stem cells into endothelial cells that can form tubular-like vessels in a dish, according to a team led by Penn State researchers. The finding has implications for developing drug-testing platforms and other clinical applications. 
Image Credit: Lian Lab / Pennsylvania State University

Blood vessels engineered from stem cells could help solve several research and clinical problems, from potentially providing a more comprehensive platform to screen if drug candidates can cross from the blood stream into the brain to developing lab-grown vascular tissue to support heart transplants, according to Penn State researchers. Led by Xiaojun “Lance” Lian, associate professor of biomedical engineering and of biology, the team discovered the specific molecular signals that can efficiently mature nascent stem cells into the endothelial cells that comprise the vessels and regulate exchanges to and from the blood stream.

They published their findings in Stem Cell Reports. The team already holds a patent on foundational method developed 10 years ago and has filed a provisional application for the expanded technology described in this paper.

The reserchers found they could achieve up to a 92% endothelial cell conversion rate by applying two proteins — SOX17 and FGF2 — to human pluripotent stem cells. This type of stem cell, which the researchers derived from a federally approved stem cell line, can differentiate into almost any other cell type if provided the right proteins or other biochemical signals. SOX17 and FGF2 engage three markers in stem cells, triggering a growth cascade that not only converts them to endothelial cells but also enables them to form tubular-like vessels in a dish.

Wednesday, March 20, 2024

Natural recycling at the origin of life

Volcanic freshwater lakes, similar to those found in Iceland today, offered a favorable niche on an early earth. The low-salt, alkaline conditions enabled early RNA replication.
Photo Credit: © Dieter Braun

How was complex life able to develop on the inhospitable early Earth? At the beginning there must have been ribonucleic acid (RNA) to carry the first genetic information. To build up complexity in their sequences, these biomolecules need to release water. On the early Earth, which was largely covered in seawater, that was not so easy to do. In a paper recently published in the Journal of the American Chemical Society (JACS), researchers from the team of LMU professor Dieter Braun have shown that in RNA’s struggle with the surrounding water, its natural recycling capabilities and the right ambient conditions could have been decisive.

“The building blocks of RNA release a water molecule for every bond they form in a growing RNA chain,” explains Braun, spokesperson for the Collaborative Research Centre (CRC) Molecular Evolution in Prebiotic Environments and coordinator at the ORIGINS Excellence Cluster. “When, conversely, water is added to an RNA molecule, the RNA building blocks are fed back into the prebiotic pool.” This turnover of water works particularly well under low saline conditions with high pH levels. “Our experiments indicate that life could emerge from a very small set of molecules, under conditions such as those prevailing on volcanic islands on the early Earth,” says Adriana Serrão, lead author of the study.

Study reveals how pH affects the ability of ulcer bacteria to attach

Anna Åberg and Anna Arnqvist Björklund.
Photo Credit: Mattias Pettersson

A study by Anna Arnqvist's research group at Umeå University reveals molecular details about the gastric pathogen Helicobacter pylori's ability to bind to an inflamed stomach and how this is controlled by the stomach's pH. Increased understanding of how H. pylori bacteria can cause a persistent lifelong infection is an important piece of the puzzle in order to ultimately identify the characteristics that contribute to disease.

When the stomach becomes infected with the gastric pathogen Helicobacter pylori, the infection lasts for life if it is left untreated. The infection can cause peptic ulcer disease as well as stomach cancer. The environment within the stomach undergoes continuous changes, requiring the bacteria to adapt by adjusting the expression of certain proteins based on the prevailing conditions.

It is commonly assumed that the stomach has a low pH. However, the pH levels vary significantly, ranging from the highly acidic environment in the stomach lumen to largely neutral conditions at the outermost layer of the stomach epithelial cells, which is protected by a mucus layer. It is in the mucus layer or tightly attached to the outermost cell layer that most H. pylori bacteria are found. The expression of many genes is regulated in response to pH, causing the bacterium to produce varying amounts of proteins depending on the pH of its surroundings.

Tuesday, March 19, 2024

Cells harvested from urine may have diagnostic potential for kidney disease, find scientists

Image Credit: AI generated / Gemini Advance

Genes expressed in human cells harvested from urine are remarkably similar to those of the kidney itself, suggesting they could be an important non-invasive source of information on the kidney.

The news offers hope that doctors may one day be able to investigate suspected kidney pathologies without carrying out invasive procedures such as biopsies, raising the tantalizing prospect of earlier and simpler disease detection.

The impact of late detection of kidney disease can be severe and can lead to serious and sometimes life-threatening complications.

The team led by University of Manchester scientists measured the levels of approximately 20,000 genes in each cellular sediment sample of urine using a technique called transcriptomics.

The British Heart Foundation-funded study benefited from access to the world's largest collection of human kidney samples collected after surgery or kidney biopsy conducted before transplantation, known as the Human Kidney Tissue Resource, at The University of Manchester.

They extracted both DNA and RNA from each sample and connected information from their analysis, together with data from previous large-scale analyses of blood pressure (called genome-wide association studies), using sophisticated computational methods.

Inflammatory bowel disease after a stem cell transplant

Additional genetic testing could make bone marrow donations even safer.
Image Credit: Gerd Altmann

A stem cell donation saves a leukemia sufferer’s life. Five years later, the patient develops a chronic inflammatory bowel disease that occurs very rarely following a transplant. Researchers from the University of Basel and University Hospital Basel have studied the case and are calling for more extensive genetic analyses in bone marrow donors.

In many forms of blood cancer, a transplant of blood stem cells is the only chance of a cure. This procedure involves first eliminating the patient’s degenerated blood stem cells and then building up their immune system again with stem cells from a donor.

So that the new immune system doesn’t turn against the recipient’s body, a series of tissue markers must match the recipient and donor. This criterion is investigated as standard. Now, a research team led by Professors Petr Hrúz from Clarunis (University Digestive Health Care Center Basel) and Mike Recher from the University of Basel and University Hospital Basel has shown that it would also be sensible to carry out a more extensive genetic analysis.

Writing in the Journal of Clinical Immunology, the team describes the case of a man who developed a chronic inflammatory bowel disease (Crohn’s disease) five years after receiving a blood stem cell transplant for leukemia. Genetic analysis revealed that a mutation had been transplanted along with the blood stem cells from the donor. This mutation affected the operation of a factor called TIM-3, a key regulator of the immune system. The donor, on the other hand, was and remains in apparently good health.

A protein found in human sweat may protect against Lyme disease

Human sweat contains a protein that may protect against Lyme disease, according to a study from MIT and the University of Helsinki. About one-third of the population carries a genetic variant of this protein that is associated with Lyme disease in genome-wide association studies.
Photo Credit: Erik Karits

Lyme disease, a bacterial infection transmitted by ticks, affects nearly half a million people in the United States every year. In most cases, antibiotics effectively clear the infection, but for some patients, symptoms linger for months or years.

Researchers at MIT and the University of Helsinki have now discovered that human sweat contains a protein that can protect against Lyme disease. They also found that about one-third of the population carries a genetic variant of this protein that is associated with Lyme disease in genome-wide association studies.

It’s unknown exactly how the protein inhibits the growth of the bacteria that cause Lyme disease, but the researchers hope to harness the protein’s protective abilities to create skin creams that could help prevent the disease, or to treat infections that don’t respond to antibiotics.

“This protein may provide some protection from Lyme disease, and we think there are real implications here for a preventative and possibly a therapeutic based on this protein,” says Michal Caspi Tal, a principal research scientist in MIT’s Department of Biological Engineering and one of the senior authors of the new study.

Hanna Ollila, a senior researcher at the Institute for Molecular Medicine at the University of Helsinki and a researcher at the Broad Institute of MIT and Harvard, is also a senior author of the paper, which appears today in Nature Communications. The paper’s lead author is Satu Strausz, a postdoc at the Institute for Molecular Medicine at the University of Helsinki.

Monday, March 18, 2024

UC Irvine-led research team discovers role of key enzymes that drive cancer mutations

“Both APOBEC3A and APOBEC3B were known to generate mutations in many kinds of tumors, but until now we did not know how to identify the specific type caused by each,” says the study’s corresponding author, Rémi Buisson (center), UCI assistant professor of biological chemistry. He’s flanked by postdoctoral fellow Pedro Ortega (left) and graduate student Ambrocio Sanchez, UCI researchers who developed a new method to characterize the particular kind of DNA modified by the enzymes.
Photo Credit: UCI School of Medicine

A research team led by the University of California, Irvine has discovered the key role that the APOBEC3A and APOBEC3B enzymes play in driving cancer mutations by modifying the DNA in tumor genomes, offering potential new targets for intervention strategies.

The study, published today online in the journal Nature Communications, describes how the researchers identified the process by which APOBEC3A and APOBEC3B detect specific DNA structures, resulting in mutations at distinct positions within the tumor genome.

“It’s critical to understand how cancer cells accumulate mutations leading to hot spots that contribute to disease progression, drug resistance and metastasis,” said corresponding author Rémi Buisson, UCI assistant professor of biological chemistry. “Both APOBEC3A and APOBEC3B were known to generate mutations in many kinds of tumors, but until now we did not know how to identify the specific type caused by each. This finding will allow us to develop novel therapies to suppress mutation formation by directly targeting each enzyme accordingly.”

All creatures great and small: Sequencing the blue whale and Etruscan shrew genomes

Prompts by Scientific Frontline
Image Credit: AI Generated by Copilot / Designer / DALL-E 3

The blue whale genome was published in the journal Molecular Biology and Evolution, and the Etruscan shrew genome was published in the journal Scientific Data.

Research models using animal cell cultures can help navigate big biological questions, but these tools are only useful when following the right map.

“The genome is a blueprint of an organism,” says Yury Bukhman, first author of the published research and a computational biologist in the Ron Stewart Computational Group at the Morgridge Institute, an independent research organization that works in affiliation with the University of Wisconsin–Madison in emerging fields such as regenerative biology, metabolism, virology and biomedical imaging. “In order to manipulate cell cultures or measure things like gene expression, you need to know the genome of the species — it makes more research possible.”

The Morgridge team’s interest in the blue whale and the Etruscan shrew began with research on the biological mechanisms behind the “developmental clock” from James Thomson, emeritus director of regenerative biology at Morgridge and longtime professor of cell and regenerative bBiology in the UW School of Medicine and Public Health.  It’s generally understood that larger organisms take longer to develop from a fertilized egg to a full-grown adult than smaller creatures, but the reason why remains unknown.

“It’s important just for fundamental biological knowledge from that perspective. How do you build such a large animal? How can it function?” says Bukhman.

Alzheimer’s Drug Fermented with Help from AI and Bacteria Moves Closer to Reality

Photo-Illustration Credit: Martha Morales/The University of Texas at Austin

Galantamine is a common medication used by people with Alzheimer’s disease and other forms of dementia around the world to treat their symptoms. Unfortunately, synthesizing the active compounds in a lab at the scale needed isn’t commercially viable. The active ingredient is extracted from daffodils through a time-consuming process, and unpredictable factors, such as weather and crop yields, can affect supply and price of the drug. 

Now, researchers at The University of Texas at Austin have developed tools — including an artificial intelligence system and glowing biosensors — to harness microbes one day to do all the work instead. 

In a paper in Nature Communications, researchers outline a process using genetically modified bacteria to create a chemical precursor of galantamine as a byproduct of the microbe’s normal cellular metabolism.  Essentially, the bacteria are programmed to convert food into medicinal compounds.

“The goal is to eventually ferment medicines like this in large quantities,” said Andrew Ellington, a professor of molecular biosciences and author of the study. “This method creates a reliable supply that is much less expensive to produce. It doesn’t have a growing season, and it can’t be impacted by drought or floods.” 

Wednesday, March 13, 2024

The integrity of the blood-brain barrier depends on a protein that is altered in some neurodegenerative diseases

From left to right, Pilar Villacampa, Víctor Arribas and Eloi Montañez.
Photo Credit: Courtesy of University of Barcelona

Defects in the blood vessel network of the central nervous system have been linked to early symptoms of neurodegenerative diseases such as Alzheimer's disease and amyotrophic lateral sclerosis (ALS). It is this complex vascular network that provides the necessary nutrients, especially glucose and oxygen to activate all neuronal functions. Now, a study led by the University of Barcelona and the Bellvitge Biomedical Research Institute (IBIDELL) reveals that the TDP-43 protein is essential for forming a stable and mature blood vessel network in the central nervous system.

According to the study the TDP-43 protein is also critical in maintaining the integrity of the blood-brain barrier, which prevents toxins and pathogens from reaching the central nervous system.

The project is led by Professor Eloi Montañez, from the Faculty of Medicine and Health Sciences of the University of Barcelona and IDIBELL, and involves teams from the Faculty of Biology and the Institute of Biomedicine of the UB (IBUB), the Josep Carreras Leukemia Research Institute, and the National Centre for Genomic Analysis (CNAG-CRG).

It's in the Blood: Donor Diets Can Trigger Allergic Reactions in Blood Recipients

Photo Credit: Aman Chaturvedi

Blood transfusions are often life-saving procedures in various medical settings. They are required not only after severe blood loss due to surgery or trauma but also as standard treatment for certain blood disorders like anemia and sickle cell disease. However, blood transfusions can have serious side effects, with allergic transfusion reactions (ATRs) being particularly prevalent among children. Although scientists believe ATRs are caused by immunoglobulin E (IgE)-mediated type 1 allergy (or “immediate hypersensitivity”), the responsible allergens are not always known.

Against this backdrop, a research team composed of Dr. Ryu Yanagisawa of Shinshu University Hospital, Japan, alongside Dr. Minoru Tozuka and Dr. Yasunori Ito from Nagano Children's Hospital, Japan, set out to find more answers. In their latest study, published online in the journal Allergy, the researchers focused their attention on what might have appeared to be an unlikely suspect. Dr. Yanagisawa, wo led the study at the University’s Division of Blood Transfusion, explains: “In our previous study, we found that pediatric patients with food allergies were characteristically more prone to ATRs. Considering that food allergies are also more prevalent in children, we decided to investigate whether the food the donor ate before giving blood could be associated with the development of ATRs in children with food allergies.”

Is life based on a seeming violation of Newton’s law in molecular interactions?

Interactions between molecules that are not equal and opposite, a seeming violation of Newton’s third law of motion, can occur naturally according to new research. A kinase enzyme adds a chemical modification to other molecules, resulting in a phosphorylated protein. Phosphatase enzymes remove the modifications, such that the kinases create products that are acted upon by phosphatases and vice versa. Researchers demonstrated that the kinase is attracted to the phosphatase, but the phosphatase is repelled by the kinase, in what is called a non-reciprocal interaction.
Illustration Credit: Niladri Sekhar Mandal / Pennsylvania State University
(CC BY-NC-ND 4.0 DEED)

It turns out that every action may not have an equal and opposite reaction, despite what Newton’s third law of motion says, according to new research conducted by a team from Penn State and the University of Maine. The finding could offer insight into how certain molecular interactions could have evolved in a pre-life world.

The work was published in the journal Chem, and the researchers said this is the first demonstration of the mechanism by which these interactions occur at the molecular level. Last year’s discovery by researchers at Kyoto University that sperm movement does not cause an opposite reaction in its environment as it moves provided an example of a seeming violation of Newton’s third law of motion, but it did not address the mechanism.

“We all have heard the phrase ‘every action has an equal and opposite reaction,’ to describe Newton’s third law of motion, but we see examples that seemingly violate this every day, especially in the behavior of complex living systems small and large where there is constant input of energy,” said Ayusman Sen, Verne M. Willaman Professor of Chemistry in the Eberly College of Science at Penn State and one of the research team leaders. “An example at the larger scale is that a predator is attracted to its prey, but the prey is repelled by the predator. This type of interaction is called non-reciprocal, and we were interested to see if it also occurred in the much simpler interactions among molecules with constant energy input.”

Tuesday, March 12, 2024

Scientists develop a rapid gene-editing screen to find effects of cancer mutations

Using a variant of CRISPR genome-editing known as prime editing, MIT researchers have developed a method to screen cancer-associated genetic mutations much more easily and quickly than any existing approach. This illustration, by Samuel Gould’s brother Owen Gould, is an artistic interpretation of the research and the idea of “rewriting the genome,” explains Samuel.
Illustration Credit: Owen Gould
(CC BY-NC-ND 4.0 DEED)

Tumors can carry mutations in hundreds of different genes, and each of those genes may be mutated in different ways — some mutations simply replace one DNA nucleotide with another, while others insert or delete larger sections of DNA.

Until now, there has been no way to quickly and easily screen each of those mutations in their natural setting to see what role they may play in the development, progression, and treatment response of a tumor. Using a variant of CRISPR genome-editing known as prime editing, MIT researchers have now come up with a way to screen those mutations much more easily.

The researchers demonstrated their technique by screening cells with more than 1,000 different mutations of the tumor suppressor gene p53, all of which have been seen in cancer patients. This method, which is easier and faster than any existing approach, and edits the genome rather than introducing an artificial version of the mutant gene, revealed that some p53 mutations are more harmful than previously thought.

The researchers say this technique could also be applied to many other cancer genes, and could eventually be used for precision medicine, to determine how an individual patient’s tumor will respond to a particular treatment.

“In one experiment, you can generate thousands of genotypes that are seen in cancer patients, and immediately test whether one or more of those genotypes are sensitive or resistant to any type of therapy that you’re interested in using,” says Francisco Sanchez-Rivera, an MIT assistant professor of biology, a member of the Koch Institute for Integrative Cancer Research, and the senior author of the study.

MIT graduate student Samuel Gould is the lead author of the paper, which appears today in Nature Biotechnology.

Monday, March 11, 2024

“Molecular Rosetta Stone” Reveals How our Microbiome Talks to Us

Bacteria in the gut convert bile acids produced by the liver into a wide array of new compounds. These molecules are akin to the language of the gut microbiome, allowing them to influence distant organ systems.
Photo Credit: Lakshmiraman Oza

Researchers from Skaggs School of Pharmacy and Pharmaceutical Sciences at the University of California San Diego have uncovered thousands of previously unknown bile acids, a type of molecule used by our gut microbiome to communicate with the rest of the body.

“Bile acids are a key component of the language of the gut microbiome, and finding this many new types radically expands our vocabulary for understanding what our gut microbes do and how they do it,” said senior author Pieter Dorrestein, Ph.D., professor at Skaggs School of Pharmacy and Pharmaceutical Sciences and professor of pharmacology and pediatrics at UC San Diego School of Medicine. “It’s like going from ‘See Spot Run’ to Shakespeare.”

The results, as described by study co-author and bile acids expert Lee Hagey, Ph.D, are akin to a molecular Rosetta stone, providing previously unknown insight into the biochemical language microbes use to influence distant organ systems.

Researchers uncover protein responsible for cold sensation

Image Credit: Copilot AI Generated 

University of Michigan researchers have identified the protein that enables mammals to sense cold, filling a long-standing knowledge gap in the field of sensory biology.

The findings, published in Nature Neuroscience, could help unravel how we sense and suffer from cold temperatures in the winter, and why some patients experience cold differently under particular disease conditions.

“The field started uncovering these temperature sensors over 20 years ago, with the discovery of a heat-sensing protein called TRPV1,” said neuroscientist Shawn Xu, a professor at the U-M Life Sciences Institute and a senior author of the new research.

“Various studies have found the proteins that sense hot, warm, even cool temperatures—but we’ve been unable to confirm what senses temperatures below about 60 degrees Fahrenheit.”

In a 2019 study, researchers in Xu’s lab discovered the first cold-sensing receptor protein in Caenorhabditis elegans, a species of millimeter-long worm that the lab studies as a model system for understanding sensory responses.

AI research gives unprecedented insight into heart genetics and structure

Image Credit Copilot AI Generated

A ground-breaking research study has used AI to understand the genetic underpinning of the heart’s left ventricle, using three-dimensional images of the organ. It was led by scientists at the University of Manchester, with collaborators from the University of Leeds (UK), the National Scientific and Technical Research Council (Santa Fe, Argentina), and IBM Research (Almaden, CA).

The highly interdisciplinary team used cutting-edge unsupervised deep learning to analyze over 50,000 three-dimensional Magnetic Resonance images of the heart from UK Biobank, a world-leading biomedical database and research resource.

The study, published in the leading journal Nature Machine Intelligence, focused on uncovering the intricate genetic underpinnings of cardiovascular traits. The research team conducted comprehensive genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS), resulting in the discovery of 49 novel genetic locations showing an association with morphological cardiac traits with high statistical significance, as well as 25 additional loci with suggestive evidence.  

The study's findings have significant implications for cardiology and precision medicine. By elucidating the genetic basis of cardiovascular traits, the research paves the way for the development of targeted therapies and interventions for individuals at risk of heart disease.

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