Alzheimer's disease in aging Down syndrome

Cohen, Ann D.; Head, Elizabeth; Lee, Joseph H.

doi:10.1002/dneu.22717

Cited by 2 publications

(1 citation statement)

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“…Another inflammationrelated neurological disorder, Alzheimer's disease, is diagnosed in 30% of individuals with DS in their fifties and 50% of those in their 60s. 86,87 The amyloid-beta protein (Aβ) gene is located on HSA21, and interferon and other neuroinflammatory cytokines may affect Aβ production and metabolism by regulating β-and γ-secretase activities. 88 An ISG signature has been detected in the brain from multiple mouse models of Alzheimer's disease.…”

Section: Arthropathy and Alzheimer's Disease In Dsmentioning

confidence: 99%

Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence

Chung¹,

Green²,

Wang³

et al. 2021

JIR

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Down syndrome (DS) is a unique genetic disease caused by the presence of an extra copy of chromosome 21, which carries four of the six interferon receptor (IFN-R) genes on its long arm. Recent studies reporting higher levels of interferon-stimulated gene (ISG) expression in primary immune cells studied ex vivo have suggested that the additional copies of the IFN-R genes in DS result in mild interferonopathy. In this review, we analyze the potential clinical and immunological impacts of this interferonopathy in DS. We performed a literature review to explore the epidemiology and risks of celiac disease, type 1 diabetes, thyroid dysfunction, mucocutaneous manifestations, infectious diseases (including COVID-19), and Alzheimer's disease in individuals with DS relative to the general population with or without iatrogenic exposure to interferons. We analyzed immunophenotyping data and the current experimental evidence concerning IFN-R expression, constitutive JAK-STAT activation, and ISG overexpression in DS. Despite the lack of direct evidence that implicating this mild interferonopathy directly in illnesses in individuals with DS, we highlight the challenges ahead and directions that could be taken to determine more clearly the biological impact of interferonopathy on various immune-related conditions in DS.

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Section: Arthropathy and Alzheimer's Disease In Dsmentioning

confidence: 99%