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Category: genetics – Page 38

It’s estimated that anywhere from three to seven percent of school-age children may have dyslexia, a neurodevelopmental issue that affects reading, spelling, and writing. There are different ideas about why dyslexia occurs, although they relate to dysfunction in brain networks, and are likely due to multiple causes in affected individuals; the disorder may not have a singular underlying cause. Neuroimaging studies of dyslexic individuals have produced inconsistent results.

Since dyslexia has a heritable, and therefore, genetic component, scientists wanted to know more about how genetics and brain mapping could reveal more about the pathology of dyslexia. A new study has shown that carriers of genetic variants that increase the risk of dyslexia also have changes in brain structure, which occur in areas that are related to language, motor coordination, and vision. The findings have been reported in Science Advances.

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Extraterrestrial and artificial life have long captivated the human mind. Knowing only the building blocks of our own biosphere, can we predict how life may exist on other planets? What factors will rein in the Frankensteinian life forms we hope to build in laboratories here on Earth?

An open-access paper published in Interface Focus and co-authored by several SFI researchers takes these questions out of the realm of science fiction and into scientific laws.

Reviewing case studies from thermodynamics, computation, genetics, cellular development, , , and evolution, the paper concludes that certain fundamental limits prevent some forms of life from ever existing.

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In a discovery that could redefine how we understand cellular resilience and adaptability, scientists at Scripps Research have unlocked the secret interactions between a primordial inorganic polymer of phosphate known as polyphosphate (polyP), and two basic building blocks of life: DNA and the element magnesium. These components formed clusters of tiny liquid droplets–also known as condensates–with flexible and adaptable structures.

PolyP and magnesium are involved in many biological processes. Thus, the findings could lead to new methods for tuning cellular responses, which could have impactful applications in translational medicine.

The ensuing study, published in Nature Communications on October 26, 2024, reveals a delicate “Goldilocks” zone—a specific magnesium concentration range—where DNA wraps around polyP-magnesium ion condensates. Similar to a thin eggshell covering a liquid-like interior, this seemingly simple structure may help cells organize and protect their genetic material.

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Sometimes pain is a necessary warning signal; for example, if we touch something very hot and it burns, we know to move our hand away. But chronic pain can destroy a person’s quality of life, and it can be extremely challenging to get relief. Some researchers have been searching for ways to deactivate pain receptors, so the body no longer feels the neural signals of chronic pain. Using mouse models of acute inflammatory pain, scientists have shown that it is possible to deactivate pain receptors with genetic engineering tools. The work has been reported in Cell.

“What we have developed is potentially a gene therapy approach for chronic pain,” said senior study author Bryan L. Roth, MD, PhD, a distinguished professor at the University of North Carolina (UNC) School of Medicine, among other appointments. “The idea is that we could deliver this chemogenetic tool through a virus to the neurons that sense the pain. Then, you could just take an inert pill and turn those neurons off, and the pain will literally disappear.”

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Children with hereditary deafness regained their hearing thanks to a type of gene therapy, a new study published on Wednesday found.

In a clinical trial, co-led by investigators from Mass Eye and Ear, a specialty hospital in Boston, six children who had a form of genetic deafness called DFNB9 were examined.

This deafness is caused by mutations of the OTOF gene. This mutation fails to produce a protein known as otoferlin, which is necessary for the transmission of sound signals from the ear to the brain, according to the researchers.

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To harness the power of the sun and make sugars for energy storage, plants use photosynthesis. But some plants are more efficient at it than others. For the first time, researchers have identified a key step in the transformation between old-fashioned C3 photosynthesis and new and improved C4 photosynthesis — which could lead to the development of more efficient, more resilient “super crops,” SciTechDaily reports.

Scientists at the Salk Institute in San Diego, California, collaborated with researchers at the University of Cambridge to make the breakthrough, charting the evolution of plants over millions of years.

While 95% of plants use C3 photosynthesis, SciTechDaily explained, a new group of plants evolved to use C4 photosynthesis around 30 million years ago.

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A new review by researchers from Oxford Population Health and the University of Iceland, published in Nature Aging, reveals how your DNA shapes reproductive health, fertility, and even life expectancy.

Led by researchers from the University of Oxford’s Leverhulme Centre for Demographic Science and the University of Iceland, the review explores how genetic variations can explain differences in reproductive health and longevity.

The study provides the most comprehensive review of male and female genetic discoveries of reproductive traits to date, and provides new insights into how our DNA affects when we have children, the timing of menopause, and even how that is connected to how long we live.

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Research published in The American Journal of Human Genetics has identified a previously unknown genetic link to autism spectrum disorder (ASD). The study found that variants in the DDX53 gene contribute to ASD, providing new insights into the genetic underpinnings of the condition.

ASD, which affects more males than females, encompasses a group of neurodevelopmental conditions that result in challenges related to communication, social understanding and behavior. While DDX53, located on the X chromosome, is known to play a role in brain development and function, it was not previously definitively associated with autism.

In the study, researchers from The Hospital for Sick Children (SickKids) in Canada and the Istituto Giannina Gaslini in Italy clinically tested 10 individuals with ASD from eight different families and found that variants in the DDX53 gene were maternally inherited and present in these individuals. Notably, the majority were male, highlighting the gene’s potential role in the male predominance observed in ASD.

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