{"id":98792,"date":"2025-05-13T19:01:08","date_gmt":"2025-05-13T19:01:08","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/98792\/"},"modified":"2025-05-13T19:01:08","modified_gmt":"2025-05-13T19:01:08","slug":"gene-variant-protects-against-inherited-form-of-dementia-researchers","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/98792\/","title":{"rendered":"Gene variant protects against inherited form of dementia: Researchers"},"content":{"rendered":"

A new study suggests that\u202fpeople who are at risk for rare genetic forms of frontotemporal dementia should consider being\u202ftested for a\u202fcommon gene variant that can protect them against the group of disorders. \u00a0<\/p>\n

A leading cause of dementia, frontotemporal dementia typically develops in midlife and can be caused by rare genetic mutations or occur sporadically in their absence.\u00a0<\/p>\n

\u201cWe know that rare mutations in mainly three genes can cause genetic frontotemporal dementia, but in combination with this common protective TMEM106B variant, the disease may never start, it may come on later or be more mild,\u201d says\u00a0Mario Masellis<\/strong>, principal investigator of the Canadian arm of the international\u00a0Genetic Frontotemporal Dementia Initiative<\/a>, neurologist at Sunnybrook Health Sciences Centre and a neurology professor in the University of Toronto\u2019s Temerty Faculty of Medicine.\u202f\u00a0<\/p>\n

\u201cIt is important to take into consideration this protective variant when an individual is involved in a clinical trial or when someone is considering finding out their genetic mutation status for frontotemporal dementia. This is particularly important if they come from a family with a known genetic cause, since the presence of two copies of this protective variant will alter risk and can modify outcomes of research investigations.\u201d\u00a0<\/p>\n

Published in the journal\u202fBrain<\/a>, the researchers recommend accounting for the protective variant in clinical trials that target the neurocognitive disorder because it can affect measures assessed in these studies\u00a0such as\u202fbrain shrinkage or atrophy, neurodegeneration biomarkers in blood tests and other measurements and cognitive skills.\u00a0<\/p>\n

The protective variant was discovered in previous large-scale genome-wide studies that showed it was protective against a specific subtype of the disease associated with a unique abnormal protein signature in the brain called TDP. The protective effect was even stronger in individuals with mutations in the GRN gene. However, researchers never fully understood how the variant protected against disease. In the most recent study, investigators examined the genetic variant in 518 people with, or at risk of developing, genetic frontotemporal dementia.\u00a0\u00a0<\/p>\n

\u201cOur study shows that individuals with two copies of this protective variant \u2013 one from each parent, and also to a lesser degree in those with one copy \u2013\u00a0had less brain shrinkage, less neurodegeneration and less decline in cognition, especially if they carried a\u202fGRN\u202fmutation,\u201d says Masellis, who is also a scientist in the Hurvitz Brain Sciences Research Program at Sunnybrook Research Institute. \u00a0<\/p>\n

The study was co-led by\u00a0Saira Mirza<\/strong>, research associate at the Dr. Sandra Black Centre for Brain Resilience and Recovery at Sunnybrook, and\u00a0Maurice Pasternak<\/strong>, a PhD candidate in Temerty Medicine\u2019s Institute of Medical Sciences.\u00a0\u202f\u00a0<\/p>\n

Approximately one-third of people with frontotemporal dementia inherit it from their parents. And while the genetically inherited forms\u202fare rare, they \u00a0cause an earlier onset of dementia and profound changes in behaviour and language abilities that significantly impact individuals and their families in the prime of their lives.\u00a0<\/p>\n

Furthermore, there are currently no approved disease-modifying therapies for genetic frontotemporal dementia, although several drug candidates are being evaluated in clinical trials.\u00a0<\/p>\n

\u201cKnowledge of the natural progression of\u202fboth genetic and sporadic\u202ffrontotemporal dementia, and the identification of factors that modify its course are crucial for the effective\u202fdevelopment\u202fof\u202fnovel\u202ftherapeutics, ideally during the stages between the appearance of initial symptoms and their full development\u202for even earlier, before irrecoverable\u202fbrain\u202fdamage has occurred,\u201d the authors write in the study. \u201cThis common protective variant should be accounted for as it can and will skew research results, leading to either false-positive or false-negative findings in clinical trials. This work is guiding us to precision medicine in action as therapeutic strategies may arise from exploiting protective genetic mechanisms.\u201d\u00a0<\/p>\n

The research was supported by the Canadian Institutes of Health Research and the Weston Brain Institute.\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"A new study suggests that\u202fpeople who are at risk for rare genetic forms of frontotemporal dementia should consider…\n","protected":false},"author":2,"featured_media":98793,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,70,16,15],"class_list":{"0":"post-98792","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-uk","11":"tag-united-kingdom"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/98792","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=98792"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/98792\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/98793"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=98792"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=98792"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=98792"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}