Tag: Genes

  • Study Reveals Genes that Allow One to be Obese and Metabolically Healthy

    Study Reveals Genes that Allow One to be Obese and Metabolically Healthy

    Doctors have long warned that excess weight raises the risk of serious conditions like type 2 diabetes, hypertension, and heart disease. But a new study suggests that this understanding may…
    Image Credi:Side view of carefree obese woman exercising on treadmill during sports training in a health club. (Getty Images)

    Doctors have long warned that excess weight raises the risk of serious conditions like type 2 diabetes, hypertension, and heart disease. But a new study suggests that this understanding may…

    Researchers at the Icahn School of Medicine in New York and the University of Copenhagen examined genetic data from over 450,000 individuals of European ancestry, identifying 266 variants in the process.

    Some individuals may put on weight yet maintain normal levels of blood pressure, cholesterol, and blood glucose, while others—who lack these genetic variants—gain weight quickly and develop complications.

    Obesity Exists in Multiple Forms, Each with Its Own Risks

    Obesity isn’t a single disorder; it comes in multiple forms, each carrying its own risks,” said Nathalie Chami, the study’s lead author.

    The team identified eight separate obesity subtypes, each influencing health in different ways. The pattern also appeared in children: those with protective variants tended to have more pronounced obesity.

    Genetic Insights Could Lead to Personalized Treatments for Obesity

    In the future, this insight could help physicians identify which patients are more vulnerable and potentially guide the development of new therapies that replicate these protective genetic mechanisms.

    Still, the scientists stress that for the vast majority, obesity remains a serious health issue. “Most people continue to face significant risks, and lifestyle factors like diet and physical activity are still crucial.”

    The World Health Organization (WHO) reports that in 2022, one in every eight people worldwide was living with obesity. Since 1990, cases have more than doubled among adults and increased fourfold among adolescents.


    Read the original article on: Exame

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  • Major Depression Breakthrough: Nearly 300 Previously Unknown Genes Discovered

    Major Depression Breakthrough: Nearly 300 Previously Unknown Genes Discovered

    We are closer than ever to accurately determining if a person’s biology makes them more prone to major depressive disorder. Researchers have identified 293 new gene variants linked to increased risk, a 42% increase from what was previously known.
    Scientists make a huge leap forward in understanding the genetic map of depression risk. Credit: Pixabay

    We are closer than ever to accurately determining if a person’s biology makes them more prone to major depressive disorder. Researchers have identified 293 new gene variants linked to increased risk, a 42% increase from what was previously known.

    A large trans-ancestry genome-wide association study (GWAS) analyzed the genetic data of 688,808 individuals with depression and 4,364,225 controls. The study identified 697 variants across 635 gene loci associated with the disorder, including 293 newly discovered variants.

    This achievement is the culmination of nearly eight years of collaboration by an international team of scientists, led by the University of Edinburgh and King’s College London, alongside researchers from QIMR Berghofer, The University of Queensland (UQ), and the Brain and Mind Centre in Sydney.

    Our study has uncovered numerous genetic factors contributing to depression, highlighting its complex genetic basis,” said UQ scientist Enda Byrne. “These discoveries pave the way for better treatments and support for those affected by the condition.”

    While depression arises from a complex interplay of biological and environmental factors, this comprehensive genetic risk map enables medical professionals to more easily identify patients predisposed to the condition.

    Genetics and Depression

    Last April, University of Sydney researchers Jacob Crouse and Ian Hickie emphasized the importance of understanding genetics in depression: “Consider two individuals—one with high genetic risk and one with low risk—who both lose their jobs. The genetically vulnerable person might perceive the loss as a threat to their self-worth and social status, feeling shame and despair, and avoiding the search for a new job out of fear of failure. In contrast, the other person might view the loss as less personal, attributing it to the company’s circumstances. These differing perspectives affect how they internalize and remember the event.”

    Although this explanation simplifies a highly nuanced and personal condition, it illustrates the impact of genetic vulnerability. Individuals with a full complement of these identified variants face a significantly higher risk of developing depression. Recognizing those most biologically at risk allows for tailored support and more effective treatment options.

    The study analyzed genetic data from 29 countries across 109 studies, with 24% of participants from non-European backgrounds, leading to the discovery of 100 novel genetic variants. It highlights the need for more research on depression in underrepresented African populations.

    While a single genetic variant has minimal impact, multiple variants can significantly increase susceptibility. Researcher Brittany Mitchell emphasized the need for better insights to improve treatment and prevention.

    Understanding depression’s genetic basis could enhance drug therapies, including repurposing medications for chronic pain or narcolepsy, and enable proactive interventions to help high-risk individuals manage stressors effectively.

    Key gene variants were identified in loci DRD2, FURIN, and CYP7B1, linked to neuroinflammation, neurosteroid synthesis, and synaptic function. Of the 697 variants found, 308 were tied to postsynaptic density and receptor clustering, critical for neuronal communication.

    Advancing Genetic Insights for Targeted Depression Treatments

    This study advances understanding of the genetic basis of synaptic and neuronal dysfunction in depression, paving the way for targeted treatments. “Inclusive studies like this can improve treatments, reduce the condition’s global impact, and underscore the biological basis of mental health disorders,” said Brittany Mitchell.

    Since the first genetic link to depression was discovered in 2011, research has strengthened the case for biology as a key factor in its risk and severity. DRD2, also linked to ADHD, Tourette’s, and PTSD, highlights the connection between dopamine signaling and attention, motivation, and impulsivity, crucial in depression and related conditions.

    FURIN and CYP7B1 are believed to have a stronger link to depression and related neurodevelopmental conditions.

    The study found that genetic factors account for approximately 37% of depression’s heritability, with the remaining 63% influenced by factors like stress, trauma, and lifestyle. Individuals with these risk variants have a 50% chance of passing them to their offspring. While this doesn’t guarantee that a child will develop depression, it raises their likelihood if other risk factors are also present.

    Understanding these variants and their connection to depression, ADHD, and anxiety disorders can help reduce stigma, minimize misdiagnosis, and accelerate the development of more effective treatments.


    Read the original article on: New Atlas

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  • Wet Dogs Don’t Choose to Shake – It’s in Their Genes

    Wet Dogs Don’t Choose to Shake – It’s in Their Genes

    Have you ever found yourself caught in a flurry of water droplets as a wet dog shook to dry off? Well, it’s not a choice. Scientists have discovered the mechanism that drives dogs—and many other furry mammals—to shake off water with intense vigor. This behavior is involuntary and has fascinating genetic roots.
    Credit: Pixabay

    Have you ever found yourself caught in a flurry of water droplets as a wet dog shook to dry off? Well, it’s not a choice. Scientists have discovered the mechanism that drives dogs—and many other furry mammals—to shake off water with intense vigor. This behavior is involuntary and has fascinating genetic roots.

    Discovering the Sensory Mechanism Behind the Shake

    Neurobiology researchers at Harvard Medical School’s Howard Hughes Medical Institute identified the complex yet efficient sensory mechanism behind the “wet dog shake,” showing that your pet isn’t trying to punish you for that bath—it’s simply a natural reflex.

    The wet dog shake is an evolutionarily conserved behavior seen across mammals, helping them remove water and other irritants from their fur-covered skin, especially on the back and neck, areas that are hard for them to reach for self-cleaning. The researchers explained that C-LTMRs detect even light forces on the hairy skin, such as water or insects, triggering motor responses that have evolved to remove water, mechanical irritants, and potential threats.

    In a series of experiments with mice, scientists applied stimuli like oil and air puffs to the back and neck—hard-to-reach areas for grooming—and used high-speed cameras to capture the onset, frequency, and duration of shaking.

    Probing the Brain’s Role in Triggering Shaking

    Neurobiology, which aims to understand brain mechanisms that trigger behaviors, led the team to use optogenetics, genetic manipulation, and real-time calcium imaging to identify active neurons. When they bred mice without C-LTMR neurons, they saw a significant reduction in the “wet dog shake” in response to mechanical stimuli like oil and water.

    C-LTMRs, or low-threshold mechanoreceptors, are sensory neurons that respond to light mechanical stimuli on hairy skin in mammals. Although researchers already knew that they activated from touch, it wasn’t clear that they played a central role in triggering the full-body shake in animals.

    The study showed how the stimuli activate the Piezo2 ion channel, which regulates the C-LTMRs, connecting to spinoparabrachial (SPB) neurons and triggering excitatory postsynaptic currents (EPSCs) along a pathway controlling this motor response.

    The researchers also used light to stimulate the neurons (optogenetics), triggering the shaking response even without physical contact, demonstrating that activating C-LTMRs alone can initiate the behavior.

    “The finding that C-LTMRs contribute to stimulus-evoked wet dog shakes allowed us to explore how these sensory neurons engage central circuits to mediate somatosensory behaviors,” the scientists noted. We confirmed that C-LTMRs are synaptically coupled to SPNs because optogenetic activation of C-LTMR terminals produced excitatory currents (EPSCs) in both SPN populations.

    A Detailed Look into the Mechanically Triggered Shaking Pathway

    “These findings collectively demonstrate the role of a C-LTMR–spinoparabrachial pathway in mechanically triggered wet dog shakes,” the team added.

    This might be more than you ever wanted to know about why water ends up on the ceiling after your dog’s bath, but it reveals just how complex sensory systems and behavioral responses can be. Until recently, limitations in technology left this discovery at the hypothetical stage.

    So, next time your dog sprays you with water, remember they’re not trying to annoy you—it’s simply in their genes.


    Read the original article on: New Atlas

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  • Electric Eel Shocks Transfer Genes to Nearby Animals

    Electric Eel Shocks Transfer Genes to Nearby Animals

    A recent investigation indicates that the electrical discharge from an electric eel is potent enough to facilitate the transfer of genetic material from the surroundings into the cells of neighboring animals.
    A study has found that the discharge from an electric eel can transfer environmental DNA to nearby animals
    Depositphotos

    A recent investigation indicates that the electrical discharge from an electric eel is potent enough to facilitate the transfer of genetic material from the surroundings into the cells of neighboring animals.

    In laboratory conditions, electroporation refers to applying an electric field to cells to enhance the permeability of their cell membrane. This enables the introduction of foreign DNA and is employed in creating knockout mice for research experiments, as well as in tumor treatment and various gene- and cell-based therapies.

    A recent investigation conducted by Nagoya University researchers in Japan proposes that the electric eel can naturally perform electroporation.

    Electric Eels in the Amazon River as Potential Natural Electroporation Agents with Far-Reaching Implications

    Atsuo Iida, the study’s corresponding author, remarked, “I thought electroporation might happen in nature. I realized that electric eels in the Amazon River could well act as a power source, organisms living in the surrounding area could act as recipient cells, and environmental DNA fragments released into the water would become foreign genes, causing genetic recombination in the surrounding organisms because of electric discharge.”

    Electric eels indeed serve as a formidable power source, being the most potent volt-producing creatures on Earth, capable of releasing up to 860 volts in a single electric organ discharge (EOD). In an experiment, researchers placed an electric eel in a freshwater tank containing six-day-old zebrafish larvae. They introduced DNA carrying green fluorescent protein (GFP) into the tank water.

    As the eel emitted an EOD while consuming an anesthetized goldfish introduced as prey, the researchers observed the zebrafish larvae under a stereomicroscope post-EOD exposure. Notably, clusters of multiple cells displaying intense green fluorescence under UV light were identified. In total, 5.3% of the larvae exhibited GFP-positive cells.

    Insights from Atsuo Iida

    Atsuo Iida, the study’s lead author, explained, “This indicates that the discharge from the electric eel promoted gene transfer to the cells, even though eels have different shapes of pulses and unstable voltage compared to machines usually used in electroporation. Electric eels and other organisms that generate electricity could affect genetic modification in nature.”

    The researchers emphasize that their study solely presents evidence of environmental gene transduction and does not establish whether the transferred gene functions as a heritable factor in offspring. Although they attempted to verify heritable transgenesis using single-celled organisms, including E. coli, no positive results were obtained, likely due to the eel’s generated voltage being around 200 to 250 V, potentially insufficient for electroporation. In contrast, machine-based electroporation for E. coli typically involves discharges exceeding 1 kV. Further investigations are required to delve into the hereditary aspects of electric discharge-mediated transgenesis in natural environments.

    Despite these challenges, the researchers express enthusiasm about their discoveries. Lead author Atsuo Iida stated, “I believe that attempts to discover new biological phenomena based on such ‘unexpected’ and ‘outside-the-box’ ideas will enlighten the world about the complexities of living organisms and trigger breakthroughs in the future.”


    Read the original article on: New Atlas

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  • Researchers Discover Genes that Directly Impact Our Food Choices

    Researchers Discover Genes that Directly Impact Our Food Choices

    Research team leader Joanne Cole, Ph.D., an assistant professor in the Department of Biomedical Informatics at the University of Colorado School of Medicine, stated that they have identified genes associated with sensory pathways, including taste, smell, and texture, which may also impact the brain's reward response.
    Credit: Unsplash.

    Research team leader Joanne Cole, Ph.D., an assistant professor in the Department of Biomedical Informatics at the University of Colorado School of Medicine, stated that they have identified genes associated with sensory pathways, including taste, smell, and texture, which may also impact the brain’s reward response.

    However, these genes could potentially be utilized to create sensory genetic profiles, allowing for personalized dietary recommendations based on a person’s food preferences.

    Identifying Genes Strongly Linked to Diet through Phenome-wide Association Study (PheWAS)

    To conduct the study, the researchers used data from the UK Biobank, which includes information from 500,000 individuals, to perform a phenome-wide association study (PheWAS).

    This study approach allowed them to identify genes strongly linked to diet, separate from other health or lifestyle factors. The findings will be presented at the NUTRITION 2023 annual meeting of the American Society for Nutrition in Boston.

    Isolating Direct Genetic Effects on Diet Amidst Environmental Influences

    The challenge in identifying diet-related genes lies in the fact that food choices are influenced by various factors, including health conditions and socioeconomic status. However, through computational methods, the researchers were able to isolate direct genetic effects impacting diet from indirect effects related to other factors.

    However the study revealed approximately 300 genes directly associated with the consumption of specific foods and nearly 200 genes linked to dietary patterns, which group various foods together.

    Harnessing Genetic Influences for Tailored Weight Loss Diets and Customized Foods

    In fact, understanding these genetic influences could pave the way for personalized weight loss diets tailored to a person’s genetic makeup and potentially even the development of foods targeted to an individual’s genetic preferences.

    In the future, Joanne Cole aims to further investigate the function of the newly identified diet-related genes and uncover more genes that directly influence food preferences.

    To conclude, the research could have practical applications in designing diets that improve adherence and exploring the use of natural or synthetic compounds to enhance the appeal of healthy foods based on an individual’s genetic predispositions.


    Read the original article on MedicalXpress.

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