MaxWell Biosystems’ Post

This editorial discusses the use of neurogenomics techniques to decode brain function and understand the mechanisms underlying brain diseases and disorders. The key points are: 1. Neurogenomics offers comprehensive perspectives on the impact of genomic alterations on brain function and helps understand the complex interactions between genetics and the environment in the pathogenesis of brain disorders like neurodevelopmental disorders (NDDs) and psychiatric disorders. 2. The research topic covered a range of insights, including functional assessments of genetic polymorphisms, epigenetic studies using patient genome data or polygenic risk scores (PRSs), and comprehensive transcriptome studies using brain disease-related mouse models. 3. The studies discussed identified genetic factors associated with brain dysfunction, such as single nucleotide polymorphisms (SNPs), short tandem repeats (STRs), and PRSs, as well as epigenetic alterations related to disease onset. 4. Future studies combining the latest single-cell transcriptome and epigenomics data will provide more in-depth knowledge on the molecular and cellular mechanisms of brain diseases and dysfunction. 5. While decoding brain function through genetic analysis is in its nascent stages, the diversity of the papers suggests that genetics has great potential to enhance our understanding of brain function, despite the current gap between genomic observations and actual brain function. #genomicanalysis #epigenetics #polygenicriskscores #transcriptomics #singlecellanalysis #neurogenetics #neurogenomics #neurology

🔍 **Insight into Neurological Disorders: New Genetic Findings** A recent study by Karl Landsteiner University, published in the *Journal of Neurochemistry*, has identified a rare genetic mutation linked to developmental and epileptic encephalopathy (DEE). This mutation disrupts brain cell communication by affecting calcium handling and structural connectivity in neurons. Key insights include: - The mutation impacts the α2δ-2 protein, essential for synaptic organization. - Research highlighted impaired recruitment of GABAA receptors, affecting inhibitory signaling—crucial in managing seizures. - Effects extend to the clustering of synapsin and synaptic strength, indicating widespread connectivity disruption. Prof. Dr. Gerald Obermair emphasizes the mutation’s role in broader neurodevelopmental disorders. This research underscores the importance of understanding "synaptopathies" and could lead to new therapeutic avenues. The study marks a significant stride in understanding how genetic anomalies can reverberate through neural networks, offering potential pathways to treatment. #Neurology #GeneticResearch #BrainHealth

Curious about the latest strides in ALS research? Explore this insightful article funded by the National Institutes of Health (NIH), unraveling the genetic basis of neuron loss in ALS patients. Discover how this research opens new doors for treatments. Click here to read more: https://lnkd.in/gDT3C6hk Let us know your thoughts on this groundbreaking research in the comments below! #medicalresearch #clinicaltrials #medicalstudies #miamiclinicalresearch #als #amyotrophiclateralsclerosis #neurologicaldisorder #neuroscience #brainhealth

🧬 Groundbreaking Research Alert! 🚀 UCLA and the University of Pennsylvania have uncovered over 214,516 new gene transcripts in the developing human brain. This extensive catalog could reshape our understanding and treatment of neurodevelopmental disorders. The unique expression of these transcripts during brain maturation could pave the way for precision therapies and enhance genetic diagnoses. This could have a significant impact on the future of neurology and psychiatry. Find out more about how this groundbreaking research could shape the future of medicine in our latest publication in Science. Let's explore the intricate dance of genes that shapes our brain's development and dive deep into the future of medicine! #Neuroscience #Genomics #BrainResearch

Groundbreaking Research: A Window into Aging and Neurodegeneration Exciting study in Science reveals a new approach to understanding both aging and Alzheimer's: • Scientists developed a method to generate neurons from Late-Onset. Alzheimer's Disease (LOAD) patient cells. • These neurons retain the cellular age of elderly individuals, a crucial breakthrough in aging research. • The model exhibits key Alzheimer's hallmarks and age-related changes. • Notably, addressing age-associated retrotransposon element dysregulation reduced Alzheimer's pathology. Key implication: This model doesn't just advance Alzheimer's research—it opens new avenues for studying how aging influences neurodegenerative diseases. Could this be the key to unlocking the mysteries of brain aging and age-related cognitive decline? #AgingResearch #Neuroscience #AlzheimersBreakthrough #HealthyAging #longevity

𝗨𝘀𝗶𝗻𝗴 𝗔𝗴𝗲𝗱 𝗣𝗮𝘁𝗶𝗲𝗻𝘁 𝗖𝗲𝗹𝗹𝘀 𝗳𝗼𝗿 𝗠𝗼𝗱𝗲𝗹𝗶𝗻𝗴 𝗟𝗮𝘁𝗲-𝗢𝗻𝘀𝗲𝘁 𝗔𝗹𝘇𝗵𝗲𝗶𝗺𝗲𝗿'𝘀 Alzheimer's disease (AD) is marked by the buildup of harmful proteins and the loss of brain cells. Most research has focused on genetic forms of early-onset AD, but the more common late-onset AD (LOAD) is harder to study  because it involves many factors, including aging. Scientists have found that using stem cells to create neurons often results in cells that are too young to show age-related changes. Instead,  they are reprogramming older cells  from patients to keep their age-related traits. Fibroblast samples from  individuals with LOAD are directly  reprogrammed into cortical neurons  in a 3D environment that better mimics the characteristics of LOAD. This new strategy may help  study and understand the disease more effectively. Hopeful! #alzheimer #neuropathology #modeling #RNA #neurodegenerativedisease #biology #aging #ageing #neurology

A study in Nature Neuroscience by Pichet Binette et al. explored how proteomic changes in patients with Alzheimer disease (AD) associate with amyloid and tau pathology, measured by PET, and compared AD's proteomic signature to that of other neurodegenerative diseases. By using an antibody-based Proximity Extension Assay, the researchers quantified 2943 proteins in the cerebrospinal fluid of 877 patients with AD and other neurodegenerative conditions, such as Parkinson's disease and progressive supranuclear palsy. They found 127 differentially abundant proteins (DAPs) across the AD continuum. Amyloid PET-associated proteins were mainly expressed in glial cells. In contrast, proteins more closely associated with tau PET were often linked to ATP metabolism and preferentially expressed in neurons. These results align with previous findings in the basic science literature, highlighting the importance of translational work aimed at characterizing distinct pathophysiological processes occurring in the brains of patients with AD. Article title: "Proteomic changes in Alzheimer disease associated with progressive Aβ plaque and tau tangle pathologies" Journal: Nature Neuroscience Link: https://lnkd.in/decQfCKq

📃Scientific paper: PlexinA1-deficient mice exhibit decreased cell density and augmented oxidative stress in parvalbumin-expressing interneurons in the medial prefrontal cortex Abstract: PlexinA1 (PlxnA1) is a transmembrane receptor for semaphorins (Semas), a large family of axonal guidance cues vital during neural development. PlxnA1 is expressed in embryonic interneurons, and PlxnA1 deletion in mice leads to less interneurons in the developing cortex. In addition, PlxnA1 has been identified as a schizophrenia susceptibility gene. In our previous study, PlxnA1 knockout (KO) mice under a BALB/cAJ genetic background exhibited significantly increased self-grooming and reduced prepulse inhibition, a reliable phenotype for investigating the neurobiology of schizophrenia. However, the mechanism underlying the abnormal behavior of PlxnA1 KO mice remains unclear. We first confirmed PlxnA1 mRNA expression in parvalbumin-expressing interneurons (PV cells) in the medial prefrontal cortex (mPFC) of adult mice. Immunohistochemical analysis (IHC) showed significantly decreased densities of both GABAergic neurons and PV cells in the mPFC of PlxnA1 KO mice compared with wild type mice (WT). PV cells were found to express molecule interacting with CasL 1 (MICAL1), an effector involved in Sema-Plxn signaling for axon guidance, suggesting MICAL1 and PlxnA1 co-expression in PV cells. Furthermore, IHC analysis of 8-oxo-dG, an oxidative stress marker, revealed significantly increased oxidative stress in PlxnA1-deficient PV cells compared with WT. Thus, increased oxidative stress and decreased PV cell density in the mPFC may determine the onset of PlxnA1 KO mice’s abnor... Continued on ES/IODE ➡️ https://etcse.fr/oFgQ ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

📃Scientific paper: PlexinA1-deficient mice exhibit decreased cell density and augmented oxidative stress in parvalbumin-expressing interneurons in the medial prefrontal cortex Abstract: PlexinA1 (PlxnA1) is a transmembrane receptor for semaphorins (Semas), a large family of axonal guidance cues vital during neural development. PlxnA1 is expressed in embryonic interneurons, and PlxnA1 deletion in mice leads to less interneurons in the developing cortex. In addition, PlxnA1 has been identified as a schizophrenia susceptibility gene. In our previous study, PlxnA1 knockout (KO) mice under a BALB/cAJ genetic background exhibited significantly increased self-grooming and reduced prepulse inhibition, a reliable phenotype for investigating the neurobiology of schizophrenia. However, the mechanism underlying the abnormal behavior of PlxnA1 KO mice remains unclear. We first confirmed PlxnA1 mRNA expression in parvalbumin-expressing interneurons (PV cells) in the medial prefrontal cortex (mPFC) of adult mice. Immunohistochemical analysis (IHC) showed significantly decreased densities of both GABAergic neurons and PV cells in the mPFC of PlxnA1 KO mice compared with wild type mice (WT). PV cells were found to express molecule interacting with CasL 1 (MICAL1), an effector involved in Sema-Plxn signaling for axon guidance, suggesting MICAL1 and PlxnA1 co-expression in PV cells. Furthermore, IHC analysis of 8-oxo-dG, an oxidative stress marker, revealed significantly increased oxidative stress in PlxnA1-deficient PV cells compared with WT. Thus, increased oxidative stress and decreased PV cell density in the mPFC may determine the onset of PlxnA1 KO mice’s abnor... Continued on ES/IODE ➡️ https://etcse.fr/oFgQ ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

Congratulations to Dr. Evangelos Kiskinis from Northwestern University for winning Life Sciences Video of the Year in the 2024 Scientists’ Choice Awards! 🎉 Produced in collaboration with Thermo Fisher Scientific, Dr. Kiskinis shares his work using patient-specific iPSC-derived systems to understand how rare genetic mutations impact the function of human neuronal subtypes and contribute toward neurological diseases such as amyotrophic lateral sclerosis (ALS) or pediatric forms of epilepsies. Watch the winning video below. #ScientistsChoiceAwards #CRISPR #CRISPRCas9 #geneticdisease #epilepsy #ALS #sclerosis