Exploring the impact of the PNPLA3 I148M variant on primary human hepatic stellate cells using 3D extracellular matrix models The PNPLA3 I148M genetic variant is a risk locus for fibrogenesis in chronic liver disease. This study, sheds light on how the PNPLA3 variant affects the behavior of hepatic stellate cells (HSCs). Authors found that the PNPLA3 variant leads to impaired respiratory chain complex IV, diminished antioxidant capacity, and heightened TGFB1 signaling, ultimately resulting in the suppression of antifibrotic NR4A1 activity. Notably, these effects are worsened in the presence of cirrhotic extracellular matrix, underscoring the synergistic impact of the PNPLA3 I148M variant and the fibrotic microenvironment. #OpenAccess here: https://lnkd.in/d-ugA4rq Krista Rombouts EASL | The Home of Hepatology
Journal of Hepatology ’s Post
More Relevant Posts
-
🔬 Exploring Genetics and Therapeutic Avenues in MASLD! Delve into our review highlighting the genetic insights shaping our understanding of Metabolic dysfunction-Associated Steatotic Liver Disease (MASLD) previously known as Nonalcoholic Fatty Liver Disease (NAFLD). 🧬 Discover how common and rare variants impact MASLD's pathogenesis, prognosis, and potential treatment targets. Read more on polygenic risk scores and novel therapeutic approaches: https://ow.ly/IKJE50QZYB3 #NAFLDResearch #MASLD #MASLDResearch #GeneticInsights #TherapeuticTargets #LiverHealth #UCSDResearch #ClinicalAdvancements
-
-
AMMG Webinar: Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol - REGISTER: https://lnkd.in/ergw-bea Date: Wednesday, March 20, 2024 - Time: 8pm EST / 7pm CST / 5pm PST (60 min) QUESTIONS? 📞 (239) 330-7495 OR 📤 conference@agemed.org You're invited to join our next webinar on "Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol" featuring Dr. Sharon Hausman-Cohen, Owner & Co-Founder of Resilient Health and Chief Medical Officer of IntellxDNA. In this webinar Dr. Sharon Hausman-Cohen will share genetically triggered factors that contribute to heart disease and how to address them. Highlights include: - Learn about little known risk factors that can convey higher risks than hyperlipidemia - Find out about genetically triggered factors that contribute to heart disease - Understand lesser known cardiac interventions like, vitamin K2, Spironolactone, Curcumin and Nattokinase - And more! Dr. Sharon Hausman-Cohen is a renowned expert in the field, bringing a wealth of knowledge and experience to guide you through the latest advancements in preserving longevity. Don't miss this opportunity to learn from a leading figure in genetic medicine. #CardiacHealth #AMMG #AgeManagementMedicine #CMEEducation #ContinuingMedicalEducation #CMEConferences IntellxxDNA®
-
-
Biopharma Executive with expertise in Early and Late Cardiovascular Clinical Development
Landmark paper presented at the 2024 European Society of Cardiology Heart Failure meeting Senthil Selvaraj Scott Solomon shedding important light on the natural history and cardiovascular disease burden for carriers of V142I (aka V122I), a pathogenic gene variant of a highly conserved protein, transthyretin (TTR). This genetically defined population, affecting about 500,000 middle-aged Blacks in the US, carries an increased risk of future adverse heart failure-related events, resulting in a projected staggering 1 million years of life lost! Much to unpack from this paper with a call to action, requiring a multi-stakeholder approach, to (1) ramp up and alleviate issues around genetic screening of at-risk individuals/families (2) implement follow-up for early detection of disease (3) ensure equitable access to care and initiate prompt treatment with existing/emerging targeted effective therapies. #cardiovasculargenetics #heartfailure #cardiomyopathy #ATTR-CM #amyloidosis #V142I #V122I Link to paper: https://lnkd.in/gmqnYhB2 Discussion with the authors: https://lnkd.in/eTw8P9_h
-
-
AMMG Webinar: Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol - REGISTER: https://lnkd.in/ergw-bea Date: Wednesday, March 20, 2024 - Time: 8pm EST / 7pm CST / 5pm PST (60 min) QUESTIONS? 📞 (239) 330-7495 OR 📤 conference@agemed.org You're invited to join our next webinar on "Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol" featuring Dr. Sharon Hausman-Cohen, Owner & Co-Founder of Resilient Health and Chief Medical Officer of IntellxDNA. In this webinar Dr. Sharon Hausman-Cohen will share genetically triggered factors that contribute to heart disease and how to address them. Highlights include: - Learn about little known risk factors that can convey higher risks than hyperlipidemia - Find out about genetically triggered factors that contribute to heart disease - Understand lesser known cardiac interventions like, vitamin K2, Spironolactone, Curcumin and Nattokinase - And more! Dr. Sharon Hausman-Cohen is a renowned expert in the field, bringing a wealth of knowledge and experience to guide you through the latest advancements in preserving longevity. Don't miss this opportunity to learn from a leading figure in genetic medicine. #CaridacHealth #AMMG #AgeManagementMedicine #CMEEducation #ContinuingMedicalEducation #CMEConferences IntellxxDNA®
-
-
Glad to share our last paper in @LSAjournal ! We uncover how ClC-5, the genetic cause of Dent's Disease, regulates collagen levels. This research helps us understand the progression to renal fibrosis. #DentDisease #vhir #kidneyresearch https://lnkd.in/es3tcAYY
-
Ophthopedia Update:Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort: Inherited retinal disease (IRD) is a leading cause of blindness. Recent advances in gene-directed therapies highlight the importance of understanding the genetic basis of these disorders. This study details the molecular spectrum in a large UK IRD patient cohort. #Ophthalmology #Retina #Ophthotwitter
Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort
-
Today the Swedish daily newspaper Svenska Dagbladet published a Rare Disease supplement. Please note the article (on p. 11) about MCT8 deficiency, an X-linked rare disease caused by mutations in the gene for a key transporter of thyroid hormone. An increased knowledge and understanding of the diagnosis of MCT8 deficiency can make life easier for those affected and their relatives. Please find the article (in Swedish) below: https://lnkd.in/dsWePPx4 #raredisease #mct8deficiency
SVAB_20240228_Z1_E1.pdf20240227110150
kund.svd.se
-
Neuropsychiatry Portfolio Strategy & Life Cycle Management at Bristol Myers Squibb
📝 Case Study: While genetic variants linked to #NASH heritability have been discovered, our understanding of the pathophysiology that underlies progression from nonalcoholic fatty liver disease (NAFLD) to NASH is incomplete. This #casestudy shares how Sapient’s discovery approaches have enabled identification of a small molecule #biomarker that has been validated in tens of thousands of individuals from around the world to represent a robust, non-invasive early diagnostic biomarker for NASH, and reveals new pathways that drive development of liver disease. https://bit.ly/49LiwUV #liverdisease #NAFLD #diseaseprogression #NASHbiomarker
-
-
Did you hear? #Natera has over 200 peer-reviewed publications! And approximately 40 of those publications feature Natera’s organ health products, including data from ProActive, the largest prospective donor-derived cfDNA study in kidney transplantation, and data from RenaCARE, a large, multisite, real-world, prospective study assessing the frequency and impact of genetic testing in chronic kidney disease. Way to go, team! #Natera https://ow.ly/IZ1T30sFnyq
Chief Medical Officer | Clinical Development
1moExciting data that further validates the development of AZD2693, AMG 609 and LY3849891. These among others are targeting this genetic variant. Looking forward to the clinical data on these and other GalNAc-ASO and GalNAc-siRNAs.