Dysregulation of the Retromer Complex System in Down Syndrome.

ABSTRACT:

Objective

Most of the patients with Down syndrome (DS) develop Alzheimer's disease (AD) neuropathology by age 40. Although this increased susceptibility to AD in DS is thought to be primarily due to triplication of the amyloid precursor protein located on chromosome 21, the precise molecular mechanisms are not well understood. Recent evidence has implicated defective protein sorting and trafficking secondary to deficiencies in retromer complex proteins in AD pathogenesis. Thus, the objective of the present study is to assess the retromer complex system in DS.

Methods

Human postmortem brain tissue and fibroblasts from subjects with DS and healthy controls were examined for the various retromer protein components using Western blot analysis and reverse transcription quantitati

SUBMITTER: Curtis ME 

PROVIDER: S-EPMC7384049 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature