A genetic twist in Ashkenazi Jewish men may both heighten cancer risk and unlock better treatment options.
Category: genetics
DNA is the genetic code that provides the biological instructions for every living species, but not every bit of DNA helps the species survive. Some pieces of DNA are more like parasites, along for the ride and their own survival.
To translate DNA into proteins, the building blocks of life, many of these selfish DNA elements have to be removed from the genetic code. Doing so enables the body to produce the wide diversity of proteins that allow for complex life, but the process can also lead to health problems, like some kinds of cancer.
University of California, Santa Cruz researchers are studying the ways that these genetic elements hide and make copies of themselves, so they can propagate within a species’ DNA, or even hop from one species to an unrelated one in a process called horizontal gene transfer.
An international team of researchers has found a genetic link to long-term symptoms after COVID-19. The identified gene variant is located close to the FOXP4 gene, which is known to affect lung function. The study, published in Nature Genetics, was led by researchers at Karolinska Institutet in Sweden and the Institute for Molecular Medicine in Finland.
Biological causes behind persistent symptoms after COVID-19 infection, known as long COVID or post-COVID, remain unclear. Common symptoms include fatigue, cognitive difficulties, and breathing problems, which can reduce quality of life.
In an international collaboration —the Long COVID Host Genetics Initiative—researchers have analyzed genetic data from 6,450 long COVID patients and more than a million controls across 24 studies from 16 countries.
Scientists say they’ve put together a new kind of molecular toolkit that could eventually be used to treat a variety of brain diseases, possibly including epilepsy, sleep disorders and Huntington’s disease.
The kit currently contains more than 1,000 tools of a type known as enhancer AAV vectors, with AAV standing for “adeno-associated virus.” A consortium that included researchers from Seattle’s Allen Institute for Brain Science and the University of Washington combined harmless adeno-associated viruses with snippets of engineered DNA to create a gene-therapy package that could target specific neurons in the brain while having no effect on other cells.
Researchers laid out their findings in a set of eight studies published today in the Cell Press family of journals. The work is part of a project called the Armamentarium for Precision Brain Cell Access, funded through the National Institutes of Health’s BRAIN Initiative.
Plants that reproduce exclusively by self-pollination arise from populations with extremely low diversity to begin with. Kobe University research not only adds a facet to possible evolutionary strategies, but also lends weight to Darwin’s suspicion that this strategy might be a path to extinction.
Charles Darwin once remarked, “It is hardly an exaggeration to say that nature tells us, in the most emphatic manner, that she abhors perpetual self-fertilization.” And yet, Kobe University botanist Suetsugu Kenji knows of a few islands in Japan where orchids reproduce without ever opening their flowers.
He says, “I’ve long been captivated by Darwin’s skepticism about plants that rely entirely on self-pollination. When I found those non-blooming orchids, I felt this was a perfect chance to directly revisit this issue. The apparent defiance of evolutionary common sense made me wonder what precise conditions—both environmental and genetic—would allow a purely self-pollinating lifestyle to emerge, let alone persist.”
Neural data analysis algorithms capable of tracking neuronal signals from one-photon functional imaging data longitudinally and reliably are still lacking. Here authors developed CaliAli, a tool for extracting calcium signals across multiple days. Validated with optogenetic tagging, dual-color imaging, and place cell data, CaliAli demonstrated stable neuron tracking for up to 99 days.
Duke University Medical Center-led research has identified a human-specific DNA enhancer that regulates neural progenitor proliferation and cortical size. Small genetic changes in HARE5 amplify a key developmental pathway, resulting in increased cortical size and neuron number in experimental models. Findings have implications for understanding the genetic mechanisms underlying neurodevelopmental disorders.
Humans possess a significantly larger and more complex cerebral cortex compared to other species, contributing to advanced cognitive functions. Comparative genomics research has identified Human Accelerated Regions (HARs), segments of non-coding DNA with human-specific genetic changes. Many HARs are located near genes associated with brain development and neural differentiation.
Because thousands of HARs have been identified and linked to brain-related genes, the next critical step is to investigate how these regulatory elements actively shape human brain features.
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Treatment seems to have been effective, but it is not clear whether such bespoke therapies can be widely applied.
Inherited mutations in the gene BRCA2 significantly increase the risk of carriers to breast and ovarian cancers. BRCA2, a crucial player in the body’s DNA repair system, aids in repairing damaged DNA. This function is particularly intriguing as our cells constantly divide and replicate, passing on any genetic damage to newly developing cells.
Because of its significant role in maintaining genetic stability, BRCA2 belongs to a class of genes known as tumor suppressors. These genes code for proteins that control how often cells divide. However, when a tumor suppressor gene, such as BRCA2, undergoes a mutational change, the protein it codes for won’t function normally, resulting in uncontrolled cell division and, in some circumstances, cancer development.
BRCA2 predisposes carriers to cancer and research has shown that BRCA2-deficient tumors respond to therapies known as PARP inhibitors, which block the function of the poly ADP-ribose polymerase 1 (PARP1) protein. PARP1 becomes activated in tumors with BRCA2 mutations, resulting in the continued abnormal growth of damaged DNA.