{"id":26913,"date":"2024-05-07T03:27:46","date_gmt":"2024-05-07T08:27:46","guid":{"rendered":"https:\/\/ustower.net\/?p=26913"},"modified":"2024-05-07T03:27:52","modified_gmt":"2024-05-07T08:27:52","slug":"some-cases-of-alzheimers-caused-by-two-copies-of-a-single-gene","status":"publish","type":"post","link":"https:\/\/ustower.net\/?p=26913","title":{"rendered":"Some cases of Alzheimer&#8217;s caused by two copies of a single gene"},"content":{"rendered":"\n<p class=\"has-medium-font-size\">For the first time, researchers have identified a genetic form of late-in-life Alzheimer\u2019s disease \u2014 in people who inherit two copies of a worrisome gene.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">Scientists have long known a gene called APOE4 is one of many things that can increase people\u2019s risk for Alzheimer\u2019s, including simply getting older. The vast majority of Alzheimer\u2019s cases occur after age 65. But research published Monday suggests that for people who carry not one but two copies of the gene, it\u2019s more than a risk factor, it\u2019s an underlying cause of the mind-robbing disease.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">The findings mark a distinction with \u201cprofound implications,\u201d said Dr. Juan Fortea, who led the study the Sant Pau Research Institute in Barcelona, Spain.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">Among them: Symptoms can begin seven to 10 years sooner than in other older adults who develop Alzheimer\u2019s.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">An estimated 15% of Alzheimer\u2019s patients carry two copies of APOE4, meaning those cases \u201ccan be tracked back to a cause and the cause is in the genes,\u201d Fortea said. Until now, genetic forms of Alzheimer\u2019s were thought to be only types that strike at much&nbsp;<a href=\"https:\/\/apnews.com\/article\/alzheimers-memory-gene-resilience-5f7c6bfb3774d9d86c018cfcdfc3f425\">younger ages<\/a>&nbsp;and account for less than 1% of all cases.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">Scientists say the research makes it critical to develop treatments that target the APOE4 gene. Some doctors&nbsp;won\u2019t offer the only drug&nbsp;that has been shown to&nbsp;<a href=\"https:\/\/www.nbcnews.com\/health\/health-news\/leqembi-alzheimers-drug-fda-approval-eisai-biogen-rcna92377\">modestly slow the disease, Leqembi<\/a>, to people with the gene pair because they\u2019re especially prone to a dangerous side effect, said Dr. Reisa Sperling, a study coauthor at Harvard-affiliated Brigham and Women\u2019s Hospital in Boston.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">Sperling&nbsp;<a href=\"https:\/\/www.aheadstudy.org\/\">hunts ways to prevent<\/a>&nbsp;or at least delay Alzheimer\u2019s and \u201cthis data for me says wow, what an important group to be able to go after before they become symptomatic.\u201d<\/p>\n\n\n\n<p class=\"has-medium-font-size\">But the news doesn\u2019t mean people should race for a gene test.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">\u201cIt\u2019s important not to scare everyone who has a family history\u201d of Alzheimer\u2019s because this gene duo isn\u2019t behind most cases, she told The Associated Press.<\/p>\n\n\n\n<h2 class=\"wp-block-heading has-medium-font-size\"><strong>How do genetics affects Alzheimer&#8217;s?<\/strong><strong><\/strong><\/h2>\n\n\n\n<p class=\"has-medium-font-size\">More than 6 million Americans, and millions more worldwide, have Alzheimer\u2019s. A handful of genes are known to cause rare \u201cearly-onset\u201d forms, mutations passed through families that trigger symptoms unusually young, by age 50. Some cases also are linked to Down syndrome.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">But Alzheimer\u2019s most commonly strikes after 65, especially in the late 70s to 80s, and the APOE gene \u2014 which also affects how the body handles fats &#8212; was long known to play some role. There are three main varieties. Most people carry the APOE3 variant that appears to neither increase nor decrease Alzheimer\u2019s risk. Some carry APOE2, which provides some protection against Alzheimer\u2019s.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">APOE4 has long been labeled the biggest genetic risk factor for late-in-life Alzheimer\u2019s, with two copies risker than one. About 2% of the global population is estimated to have inherited a copy from each parent.<\/p>\n\n\n\n<h2 class=\"wp-block-heading has-medium-font-size\"><strong>Pointing to a cause for a subset of Alzheimer&#8217;s<\/strong><strong><\/strong><\/h2>\n\n\n\n<p class=\"has-medium-font-size\">To better understand the gene\u2019s role, Fortea\u2019s team used data from 3,297 brains donated for research and from over 10,000 people in U.S. and European Alzheimer\u2019s studies. They examined symptoms and early hallmarks of Alzheimer\u2019s such as sticky amyloid in the brain.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">People with two APOE4 copies were accumulating more amyloid at age 55 than those with just one copy or the \u201cneutral\u201d APOE3 gene variety, they reported in the journal Nature Medicine. By age 65, brain scans showed significant plaque buildup in nearly three-quarters of those double carriers \u2014 who also were more likely to have initial Alzheimer\u2019s symptoms around that age rather than in the 70s or 80s.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">Fortea said the disease\u2019s underlying biology was remarkably similar to young inherited types.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">It appears more like \u201ca familial form of Alzheimer\u2019s,\u201d said Dr. Eliezer Masliah of the National Institute on Aging. \u201cIt is not just a risk factor.\u201d<\/p>\n\n\n\n<p class=\"has-medium-font-size\">Importantly, not everyone with two APOE4 genes develops Alzheimer\u2019s symptoms and researchers need to learn why, Sperling cautioned.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">\u201cIt\u2019s not quite destiny,\u201d she said.<\/p>\n\n\n\n<h2 class=\"wp-block-heading has-medium-font-size\"><strong>How new findings may affect research<\/strong><strong><\/strong><\/h2>\n\n\n\n<p class=\"has-medium-font-size\">The drug Leqembi works by clearing away some sticky amyloid but Sperling said it\u2019s not clear if carriers of two APOE4 genes benefit because they have such a high risk of a side effect from the drug \u2014 dangerous brain swelling and bleeding. One research question is whether they\u2019d do better starting such drugs sooner than other people.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">Masliah said other research aims to develop gene therapy or drugs to specifically target APOE4. He said it\u2019s also crucial to understand APOE4\u2019s effects in diverse populations since it\u2019s been studied mostly in white people of European ancestry.<\/p>\n\n\n\n<p class=\"has-medium-font-size\">As for gene tests, for now they\u2019re typically used only to evaluate if someone\u2019s a candidate for Leqembi or for people enrolling in Alzheimer\u2019s research \u2014 especially studies of possible ways to prevent the disease. Sperling said the people most likely to carry two APOE4 genes had parents who both got Alzheimer\u2019s relatively early, in their 60s rather than their 80s.<\/p>\n\n\n\n<p class=\"has-medium-font-size\"><a href=\"https:\/\/www.nbcnews.com\/health\/aging\/cases-alzheimers-caused-two-copies-single-gene-rcna150909\">Nbcnews<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>For the first time, researchers have identified a genetic form of late-in-life Alzheimer\u2019s disease \u2014 in people who inherit two copies of a worrisome gene. Scientists have long known a gene called APOE4 is one of many things that can increase people\u2019s risk for Alzheimer\u2019s, including simply getting older. The vast majority of Alzheimer\u2019s cases [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":26914,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5784],"tags":[26229,28260,28259,28261],"class_list":["post-26913","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-health","tag-alzheimers-disease","tag-genes","tag-hereditary-form","tag-heredity"],"_links":{"self":[{"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts\/26913","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=26913"}],"version-history":[{"count":1,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts\/26913\/revisions"}],"predecessor-version":[{"id":26915,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts\/26913\/revisions\/26915"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/media\/26914"}],"wp:attachment":[{"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=26913"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=26913"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=26913"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}