MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome

Abstract

Morphological abnormalities observed typically in the brains of adults with Down syndrome are identical with those present in patients with Alzheimer's disease. However, only some adults with Down syndrome suffer from early dementia, whereas others remain unaffected. We aimed to identify the genomic background responsible for this observation. We performed cognitive assessment and genome expression analysis of blood mononuclear cells in seniors with Down syndrome. Unaffected elderly patients and younger patients with severe cognitive disability or cognitive deterioration differed significantly with regard to the MTRNR2L12 gene. Our findings suggest the potential value of this gene as a blood marker of early dementia in individuals with Down syndrome.

Keywords: Alzheimer’s disease; Down syndrome; blood marker; cognitive assessment; early dementia; microarrays.

Fig.1

Expression of the MTRNR2L12 gene. Comparison of the groups of older (>55 y) patients with good/acceptable cognitive status and of younger (<55 y) patients with severe cognitive disability is presented on the left. Comparison of the same group of older patients with the group of younger (<55 y) patients with documented dementia is depicted on the right. Normalized intensity values representing expression of the MTRNR2L12 gene (microarray analysis) are visible above whereas the corresponding -ΔCt values (the RQ-PCR confirmatory analysis) are shown below.