Tau pathology differs by sex in Alzheimer's disease in Down syndrome.

ABSTRACT:

Introduction

Alzheimer's disease (AD), the leading cause of dementia, is more common in females. Although sex differences in tau pathology have been reported in AD, findings remain inconsistent. Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of AD (DS-AD) and features tau pathology, but sex effects in DS-AD remain unclear.

Methods

We examined post mortem brain samples from individuals with DS-AD, DS without AD, and a rare partial trisomy 21 (PT) case with only two amyloid precursor protein (APP) gene copies. PHF1 tau, total tau, and sarkosyl-soluble and insoluble fractions were quantified by group and sex.

Results

PHF1 tau was significantly elevated in DS-AD, especially in females. Lower total tau in DS-AD males explained the absence of sex

SUBMITTER: Chen XQ 

PROVIDER: S-EPMC12547191 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature