Trisomy 21 and the Brain

摘要: In fetuses with Down syndrome, neurons fail to show normal dendritic development, yielding a “tree in winter” appearance. This developmental failure is thought result mental retardation. adults neuronal loss dramatic and neurofibrillary neuritic Aβ plaque pathologies are consistent Alzheimer disease. These pathological changes underlie the neuropsychological physiological older individuals syndrome. Two chromosome 21-based gene products, β-amyloid precursor protein (βAPP) S100B, have been implicated these interstitial changes. Although not necessary for retardation other features, βAPP triplication necessary, although perhaps sufficient, development of pathology. S100B overexpressed throughout life patients, mice extra copies abnormalities. overexpression correlates pathology post-adolescent syndrome patients has pathogenesis. Interleukin-1 (IL-1) non-chromosome-21-based cytokine that also IL-1 upregulates expression drives numerous neurodegenerative self-amplifying cascades support neuroinflammatory component pathogenesis sporadic syndrome-related