{"id":216543,"date":"2025-06-24T22:11:21","date_gmt":"2025-06-25T03:11:21","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2025\/06\/rare-gene-mutation-delays-alzheimers-by-damping-immune-cell-inflammatory-signaling"},"modified":"2025-06-24T22:11:21","modified_gmt":"2025-06-25T03:11:21","slug":"rare-gene-mutation-delays-alzheimers-by-damping-immune-cell-inflammatory-signaling","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2025\/06\/rare-gene-mutation-delays-alzheimers-by-damping-immune-cell-inflammatory-signaling","title":{"rendered":"Rare Gene Mutation Delays Alzheimer\u2019s by Damping Immune Cell Inflammatory Signaling"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/rare-gene-mutation-delays-alzheimers-by-damping-immune-cell-inflammatory-signaling.jpg\"><\/a><\/p>\n<p>Researchers at Weill Cornell Medicine report that a rare gene mutation that delays Alzheimer\u2019s disease does so by damping inflammatory signaling in brain-resident immune cells in a preclinical study. The finding adds to growing evidence that brain inflammation is a major driver of neurodegenerative disorders such as Alzheimer\u2019s\u2014and that it may be a key therapeutic target for these disorders.<\/p>\n<p>In their study \u201c<a href=\"https:\/\/www.cell.com\/immunity\/abstract\/S1074-7613(25)00244-4\" target=\"_blank\" rel=\"noopener\">The <em>R136S<\/em> mutation in the <em>APOE3<\/em> gene confers resilience against tau pathology via inhibition of the cGAS-STING-IFN pathway<\/a>,\u201d in <em>Immunity<\/em>, the investigators examined the effects of the mutation <em>APOE3<\/em>-R136S\u2014known as the \u201cChristchurch mutation\u201d\u2014which was recently found to delay hereditary early-onset Alzheimer\u2019s. The scientists showed that the mutation inhibits the cGAS-STING pathway, an innate immune signaling cascade that is abnormally activated in Alzheimer\u2019s and other neurodegenerative diseases. The researchers found that pharmacologically blocking the cGAS-STING pathway with a drug-like inhibitor replicated key protective effects of the mutation in a preclinical model.<\/p>\n<p>\u201cThis is an exciting study because it suggests that inhibiting this cGAS-STING pathway could make the brain more resistant to the Alzheimer\u2019s process, even in the face of significant tau accumulation,\u201d said study senior author Li Gan, PhD, the Burton P. and Judith B. Resnick Distinguished Professor in Neurodegenerative Diseases and director of the Helen and Robert Appel Alzheimer\u2019s Disease Research Institute at Weill Cornell Medicine.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Researchers at Weill Cornell Medicine report that a rare gene mutation that delays Alzheimer\u2019s disease does so by damping inflammatory signaling in brain-resident immune cells in a preclinical study. The finding adds to growing evidence that brain inflammation is a major driver of neurodegenerative disorders such as Alzheimer\u2019s\u2014and that it may be a key therapeutic [\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-216543","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\/216543","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=216543"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/216543\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=216543"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=216543"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=216543"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}