L. Masana , A. Zambon , C.P. Schmitt , C. Taylan , J. Driemeyer , H. Cohen , P.S. Buonuomo , A. Alashwal , M. Al-Dubayee , J.L. Diaz-Diaz , F. Maatouk , S. Martínez Hervás , B. Mangal , S. Löwe , T. Cunningham
{"title":"Lomitapide for the treatment of paediatric homozygous familial hypercholesterolaemia patients - Results from the efficacy phase of the APH-19 study","authors":"L. Masana , A. Zambon , C.P. Schmitt , C. Taylan , J. Driemeyer , H. Cohen , P.S. Buonuomo , A. Alashwal , M. Al-Dubayee , J.L. Diaz-Diaz , F. Maatouk , S. Martínez Hervás , B. Mangal , S. Löwe , T. Cunningham","doi":"10.1016/j.athplu.2023.07.008","DOIUrl":"https://doi.org/10.1016/j.athplu.2023.07.008","url":null,"abstract":"","PeriodicalId":72324,"journal":{"name":"Atherosclerosis plus","volume":"54 ","pages":"Page S9"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667089523000214/pdfft?md5=2a14141782d2235b65cba0f09acb3090&pid=1-s2.0-S2667089523000214-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138713231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S.E. Humphries , J.Gratton , K. Haralambos , M. Futema
{"title":"How many individuals with Familial Hypercholesterolaemia (FH) need to be identified to achieve the NHS 2019 Long Term Plan ambition?","authors":"S.E. Humphries , J.Gratton , K. Haralambos , M. Futema","doi":"10.1016/j.athplu.2023.07.016","DOIUrl":"https://doi.org/10.1016/j.athplu.2023.07.016","url":null,"abstract":"","PeriodicalId":72324,"journal":{"name":"Atherosclerosis plus","volume":"54 ","pages":"Page S3"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667089523000299/pdfft?md5=32cbc6cfa7745c37eaf3ff4a3f35e8ea&pid=1-s2.0-S2667089523000299-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138713304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S.E. Humphries , R. Challis , K. Downes , E. Howard , T. Legerton , C. Macanulty , S. Morgan , A. O’Rouke , D. O’Sullivan , A. Taylor-Beadling , E. Thompson , E. Watson , G. Norbury
{"title":"How many FH genetic tests were performed by the UK Genetic Laboratory Hubs in 2022?","authors":"S.E. Humphries , R. Challis , K. Downes , E. Howard , T. Legerton , C. Macanulty , S. Morgan , A. O’Rouke , D. O’Sullivan , A. Taylor-Beadling , E. Thompson , E. Watson , G. Norbury","doi":"10.1016/j.athplu.2023.07.005","DOIUrl":"https://doi.org/10.1016/j.athplu.2023.07.005","url":null,"abstract":"","PeriodicalId":72324,"journal":{"name":"Atherosclerosis plus","volume":"54 ","pages":"Page S9"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667089523000184/pdfft?md5=e02bd551faecb97e687ddbb511b0731f&pid=1-s2.0-S2667089523000184-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138713345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B. Bashir , S. Kwok , A.S. Wierzbicki , A. Jones , C. Dawson , P. Downie , F. Jenkinson , P. Gupta , M. Mansfield , R. Kumari , D. Datta , H. Delaney , Y. Teoh , M. Williams , N. Forrester , D. O’Sullivan , Z. Miedzybrodzka , J. Payne , H. Soran
B. Bashir , S. Kwok , A.S. Wierzbicki , A. Jones , C. Dawson , P. Downie , F. Jenkinson , P. Gupta , H. Dealeny , M. Mansfield , R. Kumari , D. Datta , Y. Teoh , M. Williams , N. Forrester , D. O’Sullivan , Z. Miedzybrodzka , A. Gallo , P. Moulin , J. Payne , H. Soran
Hadjer Namous , Maria Giuseppina Strillacci , Camila Urbano Braz , Dhanu Shanmuganayagam , Christian Krueger , Athanasios Peppas , William C. Soffregen , Jess Reed , Juan F. Granada , Hasan Khatib
{"title":"ITGB2 is a central hub-gene associated with inflammation and early fibro-atheroma development in a swine model of atherosclerosis","authors":"Hadjer Namous , Maria Giuseppina Strillacci , Camila Urbano Braz , Dhanu Shanmuganayagam , Christian Krueger , Athanasios Peppas , William C. Soffregen , Jess Reed , Juan F. Granada , Hasan Khatib","doi":"10.1016/j.athplu.2023.11.001","DOIUrl":"https://doi.org/10.1016/j.athplu.2023.11.001","url":null,"abstract":"<div><h3>Background and aim</h3><p>The complex dynamic interplay between different biological pathways involved in atherosclerosis development has rendered the identification of specific therapeutic targets a challenging quest. We aimed to identify specific genes and mechanistic pathways associated with the early development of fibro-atheromas in a swine model of atherosclerosis.</p></div><div><h3>Methods</h3><p>The Wisconsin Miniature Swine™ model of Familial Hypercholesterolemia (WMS-FH, n = 11) and genetically related WMS controls (WMS-N, n = 11) were used. The infrarenal aorta was harvested from both groups for histopathologic and transcriptomic profiling at 12 months. Bioinformatic analysis was performed to identify hub genes and pathways central to disease pathophysiology. The expression of ITGB2, the top ranked hub gene, was manipulated in cell culture and the expression of interconnected genes was tested.</p></div><div><h3>Results</h3><p>Fibro-atheromatous lesions were documented in all WMS-FH aortic tissues and displayed internal elastic lamina (IEL) disruption, significant reduction of myofibroblast presence and disorganized collagen deposition. No fibro-atheromas were observed in the control group. A total of 266 differentially expressed genes (DEGs) were upregulated in WMS-FH aortic tissues, while 29 genes were downregulated. Top identified hub genes included ITGB2, C1QA, LCP2, SPI1, CSF1R, C5AR1, CTSS, MPEG1, C1QC, and CSF2RB. Overexpression of ITGB2 resulted in elevated expression of other interconnected genes expressed in porcine endothelial cells.</p></div><div><h3>Conclusion</h3><p>In a swine translational model of atherosclerosis, transcriptomic analysis identified ITGB2 as a central hub gene associated inflammation and early fibroatheroma development making it a potential therapeutic target at this stage of disease.</p></div>","PeriodicalId":72324,"journal":{"name":"Atherosclerosis plus","volume":"54 ","pages":"Pages 30-41"},"PeriodicalIF":1.6,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667089523000433/pdfft?md5=320bdbb10453fa6086111075d9285e05&pid=1-s2.0-S2667089523000433-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138437068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}