In Science, our researchers identify a protein involved in the suppression of fetal hemoglobin, and report the discovery of small molecules that could potentially be used to degrade this novel target to treat sickle cell disease. https://lnkd.in/gh8Ft3g2 #hematology #sicklecelldisease #TPD
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Yesterday was World Health Day. In the study below, released in March, researchers in Naples found that heart disease patients with #microplastics in their tissues were twice as likely to suffer a heart attack or stroke, or to die within three years. Studies in cell cultures, marine wildlife, and animal models have shown that microplastics can cause oxidative damage, DNA damage, and changes in gene activity, which are known risks for cancer development. Microplastics have been found in human breast milk and meconium, an infant’s first stool. A few studies in mice have found reproductive effects such as reduced sperm count and quality, ovarian scarring, and metabolic disorders in offspring. In another study, mice exposed to microplastics exhibited “dementia-like” behavior changes. Science agrees - microplastics are a threat to human health. And we know - solutions are available and simple to use. Our filters, for one. Not only because of the world health day... #innovation #pollutionsolution #health #sustainability #microfiber
Microplastics and Nanoplastics in Atheromas and Cardiovascular Events | NEJM
nejm.org
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In a study published in Nature Cardiovascular Research, researchers investigated the efficacy of adeno-associated virus (AAV)-mediated Plakophilin 2 (PKP2) delivery for treating arrhythmogenic cardiomyopathy (ACM), a genetic cardiac disease. Using patient-derived induced pluripotent stem cells, the researchers successfully restored PKP2 levels with an AAV vector, leading to improved desmosomal proteins and normalized sodium conduction in cardiomyocytes. The study also extended to three-dimensional cardiac tissue models and a murine ACM model, showing promising results of PKP2 restoration in improving contractility and cardiac function. #CardiacResearch #ArrhythmogenicCardiomyopathy #PKP2Restoration #HeartHealth #MedicalScience #GeneticCardiacDisease #AAVTherapy #CardiovascularHealth #ScienceInnovation #AAVResearch https://lnkd.in/ev8w5WQT
Gene therapy shows promise for arrhythmogenic cardiomyopathy
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About two months ago, 62-year-old dialysis patient Richard Slayman received a transplanted kidney from a genetically modified pig. He died Saturday. https://lnkd.in/dtp-Q5nr Slayman was the first person globally to receive a pig kidney, modified for better compatibility with human genetics, paving the way for potentially reducing the number of people on dialysis. "If kidneys from genetically modified animals can be transplanted on a large scale, dialysis 'will become obsolete,' said Dr. Leonardo V. Riella, medical director for kidney transplantation at Mass General," according to the New York Times. #HealthEquity The implications for Blacks are even more significant. As a Black man, Slayman was one of many who are four times more likely than whites to develop chronic kidney disease leading to kidney failure, which requires dialysis and, hopefully, transplantation. https://lnkd.in/e3Yb8r3 Early detection of kidney and cardiovascular diseases provides the best chance for better patient outcomes, allowing for intervention at the earliest, most treatable stages. For underserved populations, early intervention can be especially critical. Read about our AXINON® GFR(NMR) kidney function assay here: https://bit.ly/3VkRMWD We develop advanced biomarker diagnostic tests for metabolomic diseases, including chronic kidney, cardiovascular and liver conditions. Our AXINON® System makes next-generation use of nuclear magnetic resonance (NMR) spectroscopy to evaluate metabolic biomarker constellations. www.numares.com Dave DeBonville Dan Lindsay Alison Ruffin Florian Voss Michael Reiner, MBA Heath Lewis Katja Barthelmes #precisiondiagnostics #NMRmetabolomics #biomarkers #CKD #CVD
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#biology #molecularbiology #cell #research https://lnkd.in/gJSrCzzQ Abstract Regulated #cell #death mediated by dedicated molecular machines, known as programmed cell death, plays important roles in health and disease. #Apoptosis, #necroptosis and #pyroptosis are three such programmed cell death modalities. The caspase family of cysteine proteases serve as key regulators of programmed cell death. During apoptosis, a cascade of caspase activation mediates signal transduction and cellular destruction, whereas pyroptosis occurs when activated caspases cleave gasdermins, which can then form pores in the plasma membrane. Necroptosis, a form of caspase-independent programmed necrosis mediated by RIPK3 and MLKL, is inhibited by caspase-8-mediated cleavage of RIPK1. Disruption of cellular homeostatic mechanisms that are essential for cell survival, such as normal ionic and redox balance and lysosomal flux, can also induce cell death without invoking programmed cell death mechanisms. Excitotoxicity, ferroptosis and lysosomal cell death are examples of such cell death modes. In this Review, we provide an overview of the major cell death mechanisms, highlighting the latest insights into their complex regulation and execution, and their relevance to human diseases.
A guide to cell death pathways - Nature Reviews Molecular Cell Biology
nature.com
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Proud to be part of a company that's discovering solutions to better chronic kidney disease management! Early detection of kidney, cardiovascular and other metabolic diseases provides the best chance for better patient outcomes, allowing for intervention at the earliest, most treatable stages. www.numares.com #HealthEquity The implications for Blacks are even more significant. As a Black man, Richard Slayman was one of many who are four times more likely than whites to develop chronic kidney disease leading to kidney failure, which requires dialysis and, hopefully, transplantation. https://lnkd.in/e3Yb8r3 For underserved populations, early intervention can be especially critical. Read about our AXINON® GFR(NMR) kidney function assay here: https://bit.ly/3VkRMWD #precisiondiagnostics #NMRmetabolomics #kidneydisease #ESKD #nephrology #biomarkers #CKD #CVD
About two months ago, 62-year-old dialysis patient Richard Slayman received a transplanted kidney from a genetically modified pig. He died Saturday. https://lnkd.in/dtp-Q5nr Slayman was the first person globally to receive a pig kidney, modified for better compatibility with human genetics, paving the way for potentially reducing the number of people on dialysis. "If kidneys from genetically modified animals can be transplanted on a large scale, dialysis 'will become obsolete,' said Dr. Leonardo V. Riella, medical director for kidney transplantation at Mass General," according to the New York Times. #HealthEquity The implications for Blacks are even more significant. As a Black man, Slayman was one of many who are four times more likely than whites to develop chronic kidney disease leading to kidney failure, which requires dialysis and, hopefully, transplantation. https://lnkd.in/e3Yb8r3 Early detection of kidney and cardiovascular diseases provides the best chance for better patient outcomes, allowing for intervention at the earliest, most treatable stages. For underserved populations, early intervention can be especially critical. Read about our AXINON® GFR(NMR) kidney function assay here: https://bit.ly/3VkRMWD We develop advanced biomarker diagnostic tests for metabolomic diseases, including chronic kidney, cardiovascular and liver conditions. Our AXINON® System makes next-generation use of nuclear magnetic resonance (NMR) spectroscopy to evaluate metabolic biomarker constellations. www.numares.com Dave DeBonville Dan Lindsay Alison Ruffin Florian Voss Michael Reiner, MBA Heath Lewis Katja Barthelmes #precisiondiagnostics #NMRmetabolomics #biomarkers #CKD #CVD
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The heart's right atrium is a crucial structure that hasn’t been well studied in the context of chronic heart diseases. Suvi Linna-Kuosmanen, Eloi Schmauch, Manolis Kellis, and colleagues report in Cell Reports Medicine a comprehensive single-cell and spatial transcriptomic atlas of the human right atrium in valvular and ischemic heart disease progressing to heart failure. They found substantial differences in disease-associated gene expression in all cell types that suggested inflammatory microvascular dysfunction and changes in tissue composition during disease progression. The findings suggest that all important parts of the heart should be included in the study of heart disease. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch
Transcriptomic and spatial dissection of human ex vivo right atrial tissue reveals proinflammatory microvascular changes in ischemic heart disease
cell.com
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Driving Clinical Excellence: Your Trusted Clinical Trial Expert || Dedicated Analyst: Crafting Innovative Solutions Beyond Boundaries |¦| The Catalysts for Effective Solutions
The search continues: Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous, resisting classification as a singular disorder. Clinical manifestations encompass variable motor and non-motor features, with overlaps recognized between PD and other neurodegenerative conditions. While most commonly associated with alpha-synuclein pathology throughout the central and peripheral nervous systems, the distribution varies and other pathologies can modify the disease presentation or trigger similar symptoms. Nearly all cases of PD have a genetic component, with over 100 identified genes and loci implicated. Most cases likely arise from interactions between common and rare genetic variants. Despite its complex genetic architecture, research findings converge on common biological themes including synaptic, lysosomal, mitochondrial, and immune-mediated mechanisms of pathogenesis. This evolving understanding of Parkinson's syndromes, coupled with advances in biomarkers and targeted therapies, enables more successful precision medicine approaches.
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Researchers at the School of Medicine, led by Mete Civelek, PhD, have made significant strides in understanding cardiovascular diseases like atherosclerosis, a leading cause of heart attacks and strokes. By studying the extracellular matrix secreted by smooth muscle cells, they identified genetic factors influencing plaque stability. Analysing proteins from 123 heart donors, they pinpointed 20 genomic locations linked to plaque composition. This research reveals a gene variant predisposing individuals to atherosclerosis and sheds light on protein types affecting cardiovascular risk. These insights could aid in identifying high-risk patients and developing targeted therapies. Notably, the identification of the LTBP1 protein’s role in plaque stability opens avenues for potential therapeutic targets. Published in Arteriosclerosis, Thrombosis, and Vascular Biology, this work was supported by various organisations, highlighting its significance in combating cardiovascular diseases. To learn more about disruptions in the healthcare industry, subscribe to our newsletter at: https://lnkd.in/dmEUSkca
Unraveling cardiovascular disease: Genetic insights into atherosclerosis | HealthGeniuses Blog
https://healthgeniuses.com
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Biomarkers are such a critical piece of precision medicine, from diagnosis through treatment. Great work! - PCR-based assay to detect mitochondrial DNA (mtDNA) damage in blood, an indicator of Parkinson's disease. The test may help diagnose the condition before the nervous system of patients is excessively damaged. - The assay, called Mito DNADX, allowed for the real-time quantification of DNA damage in distinct loci in a 96-well platform and produced results within 24 hours. It relies on the fact that that less PCR product is produced when mtDNA damage or lesions block the ability of the DNA polymerase to replicate. - Conventional methods of detecting DNA damage could not detect mtDNA damage with great sensitivity and were often contaminated with nuclear DNA. - LRRK2 is a promising therapeutic target. But the test could also detect mtDNA damage in Parkinson's disease cases without LRRK2 mutations, as well as in LRRK2 mutation carriers with no diagnosis of the disease. - Treated idiopathic Parkinson's patient-derived lymphoblastoid cell lines with a high concentration of LRRK2 kinase inhibitor restored mtDNA damage to baseline levels within 24 hours without changing mtDNA copy number. #data, #biotech, #healthcare, #biotechnology, #bioinformatics, #genomics https://lnkd.in/enNZKf2y
A blood-based marker of mitochondrial DNA damage in Parkinson’s disease
science.org
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Exploring #Proteomics and N-#Glycoproteomics in ALG1-#CongenitalDisorderOfGlycosylation New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC): https://lnkd.in/gz3qH6Jt ALG1-congenital disorder of glycosylation (ALG1-CDG) is an inherited disorder caused by variants in the ALG1 gene. These variants affect N-glycosylation, which is the body’s process of creating, changing, and attaching sugar blocks to proteins and lipids. However, not much is known about how these variants affect the cellular proteome (proteins expressed in cells) and the process of glycosylation. In this study, researchers explored proteomics and N-glycoproteomics in ALG1-CDG. The team studied fibroblasts (connective tissue cells) from three individuals with different ALG1 variants. Results revealed altered protein levels and a reduction of mature forms of glycopeptides. Authors note that these results can help us understand the biology and molecular mechanisms of ALG1-CDG, differentiate CDG types, and identify potential biomarkers.
Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts
analyticalsciencejournals.onlinelibrary.wiley.com
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