{"id":139367,"date":"2025-10-30T15:40:05","date_gmt":"2025-10-30T19:40:05","guid":{"rendered":"https:\/\/www.bumc.bu.edu\/camed\/?post_type=bu-article&p=139367"},"modified":"2025-10-30T15:40:05","modified_gmt":"2025-10-30T19:40:05","slug":"cte-linked-to-somatic-genetic-mutations-new-study-finds","status":"publish","type":"bu-article","link":"https:\/\/www.bumc.bu.edu\/camed\/news-events\/articles\/2025\/cte-linked-to-somatic-genetic-mutations-new-study-finds\/","title":{"rendered":"CTE Linked to Somatic Genetic Mutations, New Study Finds"},"content":{"rendered":"\t
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Researchers use single-cell genome sequencing to show DNA damage similar to Alzheimer\u2019s disease in the brains of patients with CTE<\/em>.<\/h4>\n\t\t\t\t\t\t\n\t\t\t\t\t<\/div>\n\n\t\t\t\t<\/div>\n\n\t\t\t\n\t\t<\/div>\n\n\t\t\n\t<\/div>\n\n\t\n
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October 30, 2025<\/div>\n\t\t\n\t\t\t\t
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Chronic traumatic encephalopathy (CTE) \u2013 most often found in athletes playing contact sports \u2013 is known to share similarities with Alzheimer\u2019s disease (AD), namely the buildup of a protein called tau in the brain. New research <\/a>published today in Science finds even more commonalities between the two at the genetic level, showing CTE (like AD) is linked to damage to the genome.<\/p>\n\n\n\n

The research team, a collaboration between Boston Children\u2019s Hospital, Mass General Brigham, and Boston University, used single-cell genomic sequencing to identify somatic genetic mutations (changes in DNA that occurs after conception and are not hereditary).  They analyzed hundreds of neurons from the prefrontal cortex of 15 individuals with CTE and 4 individuals with RHI but without CTE and compared their findings with 19 neurotypical controls and 7 individuals with AD.<\/p>\n\n\n\n

The team found neurons from individuals with CTE had specific abnormal patterns of somatic genome damage that closely resemble those seen in AD. Notably, individuals who had RHI without CTE didn\u2019t have these changes. They also observed that the brains of individuals with CTE showed signs of damage equivalent to 100+ years of excess aging.<\/p>\n\n\n\n

\u201cOur results<\/a> suggest that CTE develops through some process in addition to head trauma,\u201d said Chris Walsh, MD, PhD, Chief of the Division of Genetics and Genomics and Investigator of the Howard Hughes Medical Institute at Boston Children\u2019s and co-corresponding author of the study. \u201cWe suspect it involves immune activation in a way similar to Alzheimer\u2019s disease, that may happen years after the trauma.\u201d<\/p>\n\n\n\n

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Ann McKee, MD<\/figcaption><\/figure><\/div>\n\n\n\n

RHI most often occurs during contact sports such as American football, hockey, or rugby or during military service. CTE has been found in the brains of teenagers and young adults playing only amateur sports, as well as in older athletes. Recent research from co-corresponding author Ann McKee<\/a>, MD, William Fairfield Warren Distinguished Professor of Neurology and Pathology at Boston University and director of BU\u2019s CTE Center found RHI causes brain damage in young people even before CTE. Their study, published last month in Nature<\/a>, suggested that RHI-related brain injury occurs before the onset of tau deposition as CTE. This new research published today adds to this growing evidence base.<\/p>\n\n\n\n

\u201cOne of the most significant aspects of our work is the introduction of a new, single-cell genome approach to CTE,\u201d said co-corresponding author Michael Miller, MD, PhD, a neuropathologist and principal investigator in the Mass General Brigham Department of Pathology. \u201cOur study provides further evidence that CTE is a bona fide neurodegenerative disease defined by its unique neuropathological features.\u201d<\/p>\n\n\n\n

Given the shared mechanisms found between CTE and AD, there could be promise in identifying shared novel targets for these two neurodegenerative diseases.<\/p>\n","protected":false},"excerpt":{"rendered":"

Chronic traumatic encephalopathy (CTE) \u2013 most often found in athletes playing contact sports \u2013 is known to share similarities with Alzheimer\u2019s disease (AD), namely the buildup of a protein called tau in the brain. New research published today in Science finds even more commonalities between the two at the genetic level, showing CTE (like AD) […]<\/p>\n","protected":false},"author":903,"featured_media":136695,"comment_status":"closed","ping_status":"closed","template":"","meta":{"bu_prepress_billboard":"","_bu_prepress_primary_term":"CTE Study","_bu_prepress_primary_term_manual":""},"tags":[325,412,94],"bu-publication":[367],"medicine-article-category":[],"medicine-topic":[],"news-article-category":[385],"news-topic":[],"bu_edition":[390],"media_type":[],"_links":{"self":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/bu-article\/139367"}],"collection":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/bu-article"}],"about":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/types\/bu-article"}],"author":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/users\/903"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/comments?post=139367"}],"version-history":[{"count":3,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/bu-article\/139367\/revisions"}],"predecessor-version":[{"id":139370,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/bu-article\/139367\/revisions\/139370"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/media\/136695"}],"wp:attachment":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/media?parent=139367"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/tags?post=139367"},{"taxonomy":"bu-publication","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/bu-publication?post=139367"},{"taxonomy":"medicine-article-category","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/medicine-article-category?post=139367"},{"taxonomy":"medicine-topic","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/medicine-topic?post=139367"},{"taxonomy":"news-article-category","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/news-article-category?post=139367"},{"taxonomy":"news-topic","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/news-topic?post=139367"},{"taxonomy":"bu_edition","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/bu_edition?post=139367"},{"taxonomy":"media_type","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/media_type?post=139367"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}