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. 2015;46(1):145-50.
doi: 10.3233/JAD-143030.

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

Miroslaw Bik-Multanowski  1 , Jacek J Pietrzyk  1 , Alina Midro  2
Affiliations

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

Miroslaw Bik-Multanowski et al. J Alzheimers Dis. 2015.

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.

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Figures

Fig.1
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.
See this image and copyright information in PMC

References

    1. Dalton AJ, Crapper-McLachlan DR. Clinical expression of Alzheimer’s disease in Down syndrome. Psychiatr Clin North Am. 1986;9:959–970. - PubMed
    1. Epstein CJ. Scriver CE, Beaudet AL, Sly WS. The Metabolic Basis of Inherited Diseases. New York: McGraw-Hill; 1989. Down syndrome (Trisomy 21) pp. 291–327.
    1. Margallo-Lana ML, Moore PB, Kay DWK, Perry RH, Reid BE, Berney TP, Tyrer SP. Fifteen-year follow-up of 92 hospitalized adults with Down’s syndrome: Incidence of cognitive decline, its relationship to age and neuropathology. J Intellect Disabil Res. 2007;51:463–477. - PubMed
    1. Tosto G, Reitz C. Genome-wide association studies in Alzheimer’s disease: A review. Curr Neurol Neurosci Rep. 2013;13:381. - PMC - PubMed
    1. Liew CC, Ma J, Tang HC, Zheng R, Dempsey AA. The peripheral blood transcriptome dynamically reflects system wide biology: A potential diagnostic tool. J Lab Clin Med. 2006;147:126–132. - PubMed

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