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Category: genetics

In Europe alone, approximately 2 million people live with chronic inflammatory bowel diseases (IBD), and their incidence has been rising steadily in recent decades. However, a small proportion of the European population carries a genetic variant that provides natural protection against IBD.

A newly published study in the journal eBioMedicine explores how this protective variant can be leveraged to develop modern therapies, demonstrating the potential of evolutionary medicine in addressing chronic diseases of the modern era.

The study, led by the Institute of Clinical Molecular Biology (IKMB) at Kiel University, brought together researchers from genetics, medicine, and archaeology.

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The SYNGAP1 gene, which supports the production of a protein called SynGAP (Synaptic Ras GTPase-Activating Protein), is known to play a key role in supporting the development of synapses and neural circuits (i.e., connections between neurons). Mutations in this gene have been linked to various learning disabilities, including intellectual disabilities, speech and language delays, autism spectrum disorder (ASD), and epilepsy.

Researchers at the Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology recently carried out a study aimed at better understanding the via which the SYNGAP1 gene contributes to healthy cognitive function. Their findings, published in Nature Communications, suggest that the autonomous expression of this gene in the cortical excitatory neurons of mice promotes the animals’ cognitive abilities via the assembly of long-range integrating sensory and motor information.

“Our paper builds on our ongoing research into how major risk genes for mental health disorders, including autism, regulate brain organization and function,” Gavin Rumbaugh, senior author of the paper, told Medical Xpress. “The field knows the major risk genes that directly contribute to cognitive and behavioral impairments that lead to diagnosable forms of autism and related neuropsychiatric disorders in humans.

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A team of Chinese scientists has used targeted gene editing to develop rice that produces coenzyme Q10 (CoQ10), a vital compound for human health.

Led by Prof. Chen Xiaoya from the CAS Center for Excellence in Molecular Plant Sciences/Shanghai Chenshan Research Center and Prof. Gao Caixia from the Institute of Genetics and Developmental Biology of the Chinese Academy of Sciences (CAS), the researchers used targeted gene editing to modify just five amino acids of the Coq1 rice enzyme, creating new rice varieties capable of synthesizing CoQ10.

The study is published in Cell.

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In a new study published in Science, a Belgian research team explores how genetic switches controlling gene activity define brain cell types across species. They trained deep learning models on human, mouse, and chicken brain data and found that while some cell types are highly conserved between birds and mammals after millions of years of evolution, others have evolved differently.

The findings not only shed new light on evolution; they also provide powerful tools for studying how shapes different cell types, across species or different disease states.

Our brain, and by extension our entire body, is made up of many different types of cells. While they share the same DNA, all these cell types have their own shape and function. What makes each cell type different is a complex puzzle that researchers have been trying to put together for decades from short DNA sequences that act like switches, controlling which genes are turned on or off.

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University of Queensland researchers have for the first time introduced genetic material into plants via their roots, opening a potential pathway for rapid crop improvement. The research is published in Nature Plants.

Professor Bernard Carroll from UQ’s School of Chemistry and Molecular Biosciences said nanoparticle technology could help fine-tune plant genes to increase crop yield and improve food quality.

“Traditional plant breeding and take many generations to produce a new crop variety, which is time-consuming and expensive,” Professor Carroll said.

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Synthetic biologists from Yale successfully rewrote the genetic code of an organism—a novel genomically recoded organism (GRO) with a single stop codon—using a cellular platform they developed that enables the production of new classes of synthetic proteins. Researchers say these synthetic proteins offer the promise of innumerable medical and industrial applications that can benefit society and human health.

A new study published in the journal Nature describes the creation of the landmark GRO, known as “Ochre,” which fully compresses redundant (or “degenerate”) codons into a single codon. A codon is a sequence of three nucleotides in DNA

DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

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If the coordination of DNA and RNA epigenetics gets thrown off, you may end up with too much or too little of a protein, Fuk suggested. “Now, a key protein will be expressed at a too high level,” he said.” This could be detrimental for a cell and contribute to tumorigenesis,” or the formation of tumors.

There are already approved therapies that inhibit the methylation of DNA, and there’s an early-phase clinical trial testing RNA methylation inhibition as a cancer treatment. Fuks and his team are testing the potential of combining these existing therapies to improve patients’ outcomes. Preliminary data from their laboratory studies hint this strategy could be useful for patients with leukemia.

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Mice learn best when the opponent opposing forces of dopamine and serotonin work together, a new study shows, helping to resolve long-standing questions about the neuromodulators’ relationship.

In the intricate dance of learning and motivation, two key brain chemicals—dopamine (DA) and serotonin (5HT)—play opposing yet deeply interconnected roles. Scientists have long speculated how these neuromodulators work together to shape our ability to form new associations, but testing these theories directly has been a challenge.

Now, researchers have developed a new mouse model that allows them to simultaneously study both dopamine and serotonin neurons in the brain. Their experiments focused on the nucleus accumbens (NAc), a region known for processing rewards. By monitoring neural activity, they found that receiving a reward boosts dopamine signals while simultaneously suppressing serotonin signals.

To understand how this dynamic affects learning, the team used optogenetics—a technique that uses light to control brain activity. They found that disrupting dopamine or serotonin alone caused only mild learning impairments. However, when both signals were suppressed together, the mice struggled significantly to learn from rewards. On the flip side, artificially recreating both dopamine and serotonin responses helped the mice learn more effectively than manipulating either signal alone.

These findings reveal that dopamine and serotonin work in opposition to control reinforcement and learning. Instead of acting in isolation, they create a delicate balance that shapes how we associate actions with rewards—providing new insights into how the brain learns and adapts.

Continue reading “Dopamine ‘gas pedal’ and serotonin ‘brake’ team up to accelerate learning” | >

While most animals reproduce sexually, some species rely solely on females for parthenogenetic reproduction. Even in these species, rare males occasionally appear. Whether these males retain reproductive functions is a key question in understanding the evolution of reproductive strategies.

A new study published in Ecology by a research team led by Assistant Professor Tomonari Nozaki from the National Institute for Basic Biology, Professor Kenji Suetsugu from Kobe University, and Associate Professor Shingo Kaneko from Fukushima University provides insight into this question. The researchers focused on the rare males of Ramulus mikado, a stick insect species in Japan, where parthenogenesis is predominant. Their analysis of male reproductive behavior reveals new findings.

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Washington State University scientists have developed genetically engineered mice that could help accelerate anti-aging research.

Globally, researchers are striving to unlock the secrets of extending human lifespan at the cellular level, where aging occurs gradually due to the shortening of telomeres—the protective caps at the ends of chromosomes that function like shoelace tips, preventing unraveling. As telomeres shorten over time, cells lose their ability to divide for healthy growth, and some eventually begin to die.

However, studying telomeres at the cellular level has been challenging in humans.

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