{"id":1331,"date":"2019-09-09T12:45:02","date_gmt":"2019-09-09T12:45:02","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1331"},"modified":"2026-02-24T00:29:20","modified_gmt":"2026-02-24T00:29:20","slug":"homozygous-damaging-sod2-variant-causes-lethal-neonatal-dilated-cardiomyopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/09\/homozygous-damaging-sod2-variant-causes-lethal-neonatal-dilated-cardiomyopathy\/","title":{"rendered":"Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy (Contributed by Dr. Johanna Herkert)"},"content":{"rendered":"

Cardiomyopathy, or a deterioration of the ability of the heart muscle to contract, generally leads to progressive heart failure. It is frequently inherited, and, because approximately 40% of affected children are likely to die within five years of diagnosis, being able to identify its genetic basis is particularly important. Now, we have identified a new disease gene,\u00a0superoxide dismutase 2<\/em>\u00a0(SOD2<\/em>) which is implicated in the development of severe paediatric cardiomyopathy. SOD2 is an enzyme that scavenges oxygen radicals that are produced during normal energy metabolism of the cells. The SOD2 variant was shown to affect the catalytic activity of the protein, leading to excess oxygen radical levels that can have strongly damaging effects in the neonatal heart. Our findings offer new clues for future studies into the pathogenesis of cardiomyopathy and may contribute to the development of gene-tailored management strategies. (https:\/\/jmg.bmj.com\/content\/early\/2019\/09\/06\/jmedgenet-2019-106330<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Cardiomyopathy, or a deterioration of the ability of the heart muscle to contract, generally leads to progressive heart failure. It is frequently inherited, and, because approximately 40% of affected children are likely to die within five years of diagnosis, being able to identify its genetic basis is particularly important. Now, we have identified a new […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1331","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nHomozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy (Contributed by Dr. Johanna Herkert) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/09\/homozygous-damaging-sod2-variant-causes-lethal-neonatal-dilated-cardiomyopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy (Contributed by Dr. Johanna Herkert) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cardiomyopathy, or a deterioration of the ability of the heart muscle to contract, generally leads to progressive heart failure. 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