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

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


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / blood*
  • Alzheimer Disease / complications*
  • Cohort Studies
  • Down Syndrome / complications*
  • Female
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Male
  • Middle Aged
  • Neuropsychological Tests
  • Proteins / genetics*
  • Proteins / metabolism*
  • Psychiatric Status Rating Scales
  • RNA, Messenger / metabolism
  • Severity of Illness Index
  • Sex Factors


  • Intercellular Signaling Peptides and Proteins
  • MTRNR2L1 protein, human
  • Proteins
  • RNA, Messenger