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Showing posts from October, 2024

Study connects brain volume variations with genetic risk factors for Parkinson’s disease and ADHD

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  In a recent study published in Nature Genetics , a group of researchers identified genetic loci associated with intracranial volume (ICV) (total space within the skull that contains the brain, cerebrospinal fluid, and blood) and subcortical brain volumes. It explored their predictive value across ancestries and their links to neurodevelopmental and neuropsychiatric disorders. Background Subcortical brain structures are crucial in psychiatric, neurological , and developmental disorders, affecting key functions like learning, memory, and motor control. ICV is also associated with neuropsychiatric traits. Genome-wide association studies (GWAS) have revealed shared genetic links between brain structures and behavioral traits. However, further research is required to identify more genetic variants and clarify their roles in brain structure and disease across diverse populations. About the study The present study was based on a meta-analysis of previously published data, all of wh...

Scientists turn to the cloud to streamline supercomputer calculations for chemistry

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  A team led by researchers from the Pacific Northwest National Laboratory is finding new ways to accelerate the pace of computational chemistry, by making tools for quantum computing and AI-assisted data analysis available via the cloud. Their effort to make supercomputer-scale resources more widely available through cloud computing could aid in the search for methods to break down toxic “forever chemicals ” that are currently hard to get rid of. And that’s just one example. The researchers describe their progress on the project — known as Transferring Exascale Computational Chemistry to Cloud Computing Environment and Emerging Hardware Technologies, or TEC4 — in a study published today in the Journal of Chemical Physics. “This is an entirely new paradigm for scientific computing,” PNNL computational chemist Karol Kowalski, who led the cross-disciplinary effort, said in a news release. “We have shown that it’s possible to bundle software as a service with cloud computing reso...

Researchers uncover why the TP53 gene is especially prone to mutations in cancer

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  In a recent perspective published in the journal Cell Death and Differentiation, researchers in France, Germany, and Sweden discussed the unique mutational spectrum of the transformation-related protein 53 (TP53) gene, which leads to p53 inactivation in many cancers . Background The traditional view of cancer development, driven by oncogene activation and tumor suppressor loss, has expanded to include genes involved in deoxyribonucleic acid (DNA) repair and immune escape. Oncogenic mutations often involve single nucleotide substitutions at specific hotspots, leading to hyperactive or gain-of-function variants. Tumor suppressor mutations typically involve indels, splicing, or nonsense mutations distributed throughout the gene. The TP53 gene is unique, with most mutations being missense and concentrated in the DNA -binding domain (DBD), possibly due to evolutionary pressures favoring a protein that balances flexibility and functional responsiveness over stability. This fragilit...

Genetic variant identified as potential predictor for severe ulcerative colitis

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  In a recent study published in the JAMA, a group of researchers identified biomarkers of severe ulcerative colitis through a Danish genome-wide association study (GWAS). Background Ulcerative colitis is a chronic, immune-mediated disease with rising incidence, creating a critical need to identify biomarkers that can help pinpoint subgroups requiring intensified monitoring and treatment to prevent recurrent hospitalizations and surgeries. Further research is essential to refine these biomarkers for better risk assessment and targeted interventions in diverse patient populations. About the study Two source populations were used for the present study. The Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT) neonatal blood spot cohort (NBS) included individuals born in Denmark and diagnosed with ulcerative colitis from 1981 to 2022. The North Denmark Biobank study (NorDIBD) was a population-based cohort from Northern Denmark, comprising patients diagnosed with in...

Scientists reveal how miRNAs shape cancer and offer new paths for treatment

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  A recent review published in the journal MedComm Oncology describes how microRNAs (miRNAs) interact to cause cancer and their potential role in the diagnosis and treatment of this disease. What are miRNAs? The first miRNA was discovered in 1993 in Caenorhabditis elegans, a commonly used animal model, and has since been detected in both plants and animals. After their synthesis as primary miRNAs, miRNAs undergo processing to become mature functional miRNAs. Functional miRNAs are found in both intron and exon noncoding RNAs (ncRNAs) and the introns of pre-RNAs. The primary activity of miRNAs is to prevent messenger RNA (mRNA) translation by either breaking down mRNA or binding to the 3’ untranslated region (3’ UTR) of a target RNA molecule to repress the expression of protein-coding genes. In fact, miRNAs post-transcriptionally regulate over 60% of human genes coding for proteins and modulate all aspects of the cell cycle from growth to differentiation and apoptosis. The role of m...

New research gives unprecedented view of colorectal cancer genetic makeup

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  In a recent study published in Nature, a group of researchers provided a comprehensive genomic characterization of colorectal carcinoma (CRC), a type of cancer that starts in the colon or rectum, through whole-genome sequencing (WGS) of 2,023 samples, identifying novel driver genes, molecular subgroups, and potential clinical implications. Background CRC is the third most common cancer globally. Previous CRC sequencing efforts were limited in scope, focusing on a few hundred cases and primarily using whole-exome or gene panel sequencing, leaving the full range of genomic alterations and clinical associations unclear. Further research is needed to explore the functional significance of newly identified driver mutations and to develop targeted therapies for diverse CRC subgroups. About the study Sample collection for the present study followed a detailed protocol, beginning with ethics approval granted by the Health Research Authority (HRA) Committee East of England–Cambridge So...

Chemists develop robust molecule that gives organic electronic devices a boost

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  RIKEN chemists have developed a molecule that enhances the performance of organic electronic devices and is also more stable than previous alternatives, raising the chances that it could be used in industrial manufacturing processes. The study is published in Advanced Materials. Conventional electronic devices are made from hard semiconductors such as silicon, but increasingly organic semiconductor molecules are appearing in devices such as televisions and cell-phone displays that use organic light-emitting diodes (OLEDs). " Organic electronic devices are strong candidates for thin, light and flexible devices, which are not easily realized using inorganic materials ," explains Kazuo Takimiya of the RIKEN Center for Emergent Matter Science, who led the research. But organic semiconductors need a helping hand from other molecules , known as dopants, to boost the flow of charge through them. For example, some dopants contain electrons in high-energy levels, which can be re...

New tool spots drug-resistant bacteria before treatment

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  Penicillin was hailed as "the silver bullet" when it was discovered, as it had the unprecedented quality of being able to kill disease-causing bacteria without harming the human body. Since then, a multitude of other antibiotics have been developed that specifically target a wide range of bacteria ; but the more often they are used, the greater the risk that antibiotic -resistant strains will arise. In a study recently published in Frontiers in Microbiology , researchers from Osaka University have revealed that bacteria exhibit characteristic shape differences when they are resistant to drug treatment. Antibiotic resistance is a major public health problem worldwide, as it means that we have fewer and fewer options for treating bacterial infections. Identifying antibiotic-resistant bacteria quickly is important for ensuring that patients receive effective treatment; but the most readily available method for doing this involves several days of growing the bacteria in a la...

The molecular underpinnings by which traumatic brain injury increases Alzheimer's disease risk

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  A recent study in Acta Neuropathologica investigated the relationship between tau protein and BCL2-associated athanogene 3 (BAG3) and its possible role in traumatic brain injury (TBI) pathology . Background Traumatic brain injuries are a leading cause of mortality and disability in the United States. Growing evidence suggests that TBI in early or middle age increases the likelihood of acquiring Alzheimer's disease (AD) and related dementia (ADRD). However, the biological pathways behind TBI-inflicted Alzheimer's disease-like disease and cognitive impairments are unknown. Previous investigations have shown that BAG3 modulates tau protein clearance. BAG3 enhances autophagy, which presumably reduces protein aggregation. Neuronal BAG3 deficiency exacerbates pathogenic tau protein accumulation, whereas overexpression reduces tau formation. In Alzheimer's disease, BAG3 levels decrease in excitatory neurons while increasing in astrocytes . BAG3 in astrocytes protects again...