Abstract
Down syndrome (DS) is the most prevalent chromosomal abnormality. Early-onset dementia with the pathology of Alzheimer’s disease (AD) frequently develops in DS. Reliable blood biomarkers are needed to support the diagnosis for dementia in DS, since positron emission tomography or cerebrospinal fluid sampling is burdensome, particularly for patients with DS. Plasma t-tau is one of the established biomarkers for the diagnosis of AD, suggesting the potential value of t-tau as a biomarker for dementia in DS. The aim of this study was to assess and compare plasma levels of t-tau in adults with DS and in an age-matched control population. In this study, plasma levels of t-tau in 21 patients with DS and 22 control participants were measured by an ultrasensitive immunoassay technology, the single-molecule immunoarray (Simoa) method. We observed significantly increased plasma t-tau levels in the DS group (mean ± standard deviation (SD) = 0.643±0.493) compared to those in the control group (mean ± SD = 0.470±0.232): P = 0.0050. Moreover, age dependent correlation of plasma t-tau was only found in the DS group, and not in the control group. These findings suggest that elevated plasma t-tau levels reflect AD pathology and therefore have potential as an objective biomarker to detect dementia in adult DS.
Highlights
Down syndrome (DS) is the most frequently occurring chromosomal abnormality in humans and affects between 1 in 700 babies born [1]
The mechanisms behind this are thought to be overexpression of APP located on chromosome 21 that leads overproduction of amyloid β (Aβ) [5] as well as overexpression of Dyrk1A and RCAN1 located on chromosome 21 which are both involved in hyperphosphorylation of tau [6,7,8]
We found no significant difference in median ages (P = 0.313) and gender frequencies (P = 0.245) between the DS group and the control group
Summary
Down syndrome (DS) is the most frequently occurring chromosomal abnormality in humans and affects between 1 in 700 babies born [1]. Most people with Down syndrome (DS) did not live to old age Their average life expectancy has been improved dramatically and exceeds 50 years in developed countries due to better health care [2, 3]. Pathological brain changes of aged individuals with DS are almost identical to those of patients with Alzheimer’s disease (AD), consisting of both senile plaques and neurofibrillary tangles composed of amyloid β (Aβ) and phosphorylated tau, respectively [5] The mechanisms behind this are thought to be overexpression of APP located on chromosome 21 that leads overproduction of Aβ [5] as well as overexpression of Dyrk1A and RCAN1 located on chromosome 21 which are both involved in hyperphosphorylation of tau [6,7,8]. People with DS have even been recognized as having presymptomatic AD, according to International Working Group-2 criteria, similar to carriers of autosomal dominant mutations in PSEN1, PSEN2, or APP [9]
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