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Aging Neurosci."],"abstract":"<jats:p>Alzheimer\u2019s disease (AD) genetics studies have identified a coding variant within <jats:italic>ABI3<\/jats:italic> gene that increases the risk of developing AD. Recently, we demonstrated that deletion of the <jats:italic>Abi3<\/jats:italic> gene locus dramatically exacerbates AD neuropathology in a transgenic mouse model of amyloidosis. In the course of this AD project, we unexpectedly found that deletion of the <jats:italic>Abi3<\/jats:italic> gene locus resulted in a dramatic obese phenotype in non-transgenic mice. Here, we report our investigation into this serendipitous metabolic finding. Specifically, we demonstrate that mice with deletion of the <jats:italic>Abi3<\/jats:italic> gene locus (<jats:italic>Abi3<jats:sup>\u2013\/\u2013<\/jats:sup><\/jats:italic>) have dramatically increased body weight and body fat. Further, we determined that <jats:italic>Abi3<jats:sup>\u2013\/\u2013<\/jats:sup><\/jats:italic> mice have impaired energy expenditure. Additionally, we found that deletion of the <jats:italic>Abi3<\/jats:italic> gene locus altered gene expression within the hypothalamus, particularly within immune-related pathways. Subsequent immunohistological analysis of the central nervous system (CNS) revealed that microglia number and area were decreased specifically within the mediobasal hypothalamus of <jats:italic>Abi3<jats:sup>\u2013\/\u2013<\/jats:sup><\/jats:italic> mice. Altogether, this investigation establishes the functional importance of the <jats:italic>Abi3<\/jats:italic> gene locus in the regulation of systemic metabolism and maintenance of healthy body weight. While our previous findings indicated the importance of <jats:italic>Abi3<\/jats:italic> in neurodegeneration, this study indicates that <jats:italic>Abi3<\/jats:italic> related functions are also essential for metabolic regulation.<\/jats:p>","DOI":"10.3389\/fnagi.2022.1035572","type":"journal-article","created":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T09:39:05Z","timestamp":1671701945000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Deletion of the Alzheimer\u2019s disease risk gene Abi3 locus results in obesity and systemic metabolic disruption in mice"],"prefix":"10.3389","volume":"14","author":[{"given":"Daniel C.","family":"Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hande","family":"Karahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. R. 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