{"id":207795,"date":"2025-03-04T12:14:09","date_gmt":"2025-03-04T18:14:09","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2025\/03\/aav-gene-therapy-for-maple-syrup-urine-disease-shows-promise"},"modified":"2025-03-04T12:14:09","modified_gmt":"2025-03-04T18:14:09","slug":"aav-gene-therapy-for-maple-syrup-urine-disease-shows-promise","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2025\/03\/aav-gene-therapy-for-maple-syrup-urine-disease-shows-promise","title":{"rendered":"AAV Gene Therapy for Maple Syrup Urine Disease Shows Promise"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/aav-gene-therapy-for-maple-syrup-urine-disease-shows-promise.jpg\"><\/a><\/p>\n<p>Maple syrup urine disease (MSUD) is a rare genetic inborn error of metabolism characterized by recurrent life-threatening neurologic crises and progressive brain injury. The disease is typically caused by biallelic mutations in genes (branched-chain \u03b1-ketoacid dehydrogenase E1\u03b1 (BCKDHA), E1\u03b2 (BCKDHB), or dihydrolipoamide branched-chain transacylase (DBT)) subunits which interact to form the mitochondrial BCKDH complex that decarboxylates ketoacid derivatives of leucine, isoleucine, and valine. MSUD can be treated by a strictly controlled diet or allogeneic liver transplantation.<\/p>\n<p>Now, new work demonstrates that a gene therapy prevented newborn death, normalized growth, restored coordinated expression of the affected genes, and stabilized biomarkers in a calf as well as in mice.<\/p>\n<p>This work is published in <em>Science Translational Medicine<\/em> in the paper, \u201c<a href=\"https:\/\/www.science.org\/doi\/10.1126\/scitranslmed.ads0539\" target=\"_blank\" rel=\"noopener\">BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.<\/a>\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Maple syrup urine disease (MSUD) is a rare genetic inborn error of metabolism characterized by recurrent life-threatening neurologic crises and progressive brain injury. The disease is typically caused by biallelic mutations in genes (branched-chain \u03b1-ketoacid dehydrogenase E1\u03b1 (BCKDHA), E1\u03b2 (BCKDHB), or dihydrolipoamide branched-chain transacylase (DBT)) subunits which interact to form the mitochondrial BCKDH complex that [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412,47],"tags":[],"class_list":["post-207795","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics","category-neuroscience"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/207795","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=207795"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/207795\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=207795"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=207795"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=207795"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}