Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome

Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):772-778. doi: 10.1002/ajmg.b.32575. Epub 2017 Aug 30.

Abstract

Telomere shortening was shown to parallel Alzheimer's disease (AD) associated dementia. By using a dual PNA Probe system we have developed a practical method for comparing telomere length in T-lymphocyte interphases from individuals with Down syndrome (DS) with and without "mild cognitive impairment" (MCI-DS) and demonstrated that telomere length can serve as a valid biomarker for the onset of MCI-DS in this high-risk population. To verify progressive cognitive decline we have now examined sequential changes in telomere length in 10 adults with DS (N = 4 Female, N = 6 Male) developing MCI-DS. Cases were selected blind to telomere length from a sample of adults with DS previously enrolled in a prospective longitudinal study at 18-month intervals with clinical and telomere assessments: (1) MCI-DS group data were collected approximately three years prior to development of MCI-DS; (2) 18 months later; (3) when MCI-DS was first observed. These telomere measures were compared to those from another 10 adults with DS matched by sex and approximate age but without indications of MCI-DS (Controls). PNA (peptide nucleic acid) probes for telomeres together with a chromosome two centromere probe were used. Findings indicated telomere shortening over time for both Cases and Controls. Group differences emerged by 18-months prior to recognition of MCI-DS onset and completely non-overlapping distributions of telomere measures were observed by the time of MCI-DS onset. This study adds to accumulating evidence of the value of telomere length, as an early biomarker of AD progression in adults with Down syndrome.

Keywords: aging; down syndrome; telomere shortening.

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / complications
  • Alzheimer Disease / genetics
  • Alzheimer Disease / pathology*
  • Biomarkers / analysis*
  • Cognitive Dysfunction / complications
  • Cognitive Dysfunction / genetics
  • Cognitive Dysfunction / pathology*
  • Disease Progression
  • Down Syndrome / complications
  • Down Syndrome / genetics
  • Down Syndrome / pathology*
  • Female
  • Humans
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Prospective Studies
  • Telomere Shortening*

Substances

  • Biomarkers