Publications by authors named "Jaclyn Eissman"
Sex and gender-biological and social constructs-significantly impact the prevalence of protective and risk factors, influencing the burden of Alzheimer's disease (AD; amyloid beta and tau) and other pathologies (e.g., cerebrovascular disease) which ultimately shape cognitive trajectories.
View Article and Find Full Text PDFIntroduction: Although large-scale genome-wide association studies (GWAS) have been conducted on AD, few have been conducted on continuous measures of memory performance and memory decline.
Methods: We conducted a cross-ancestry GWAS on memory performance (in 27,633 participants) and memory decline (in 22,365 participants; 129,201 observations) by leveraging harmonized cognitive data from four aging cohorts.
Results: We found high heritability for two ancestry backgrounds.
Background: Women demonstrate a memory advantage when cognitively healthy yet lose this advantage to men in Alzheimer's disease. However, the genetic underpinnings of this sex difference in memory performance remain unclear.
Methods: We conducted the largest sex-aware genetic study on late-life memory to date (N = 11,942; N = 15,641).
Article Synopsis
- The study investigates how sex and race influence the relationship between apolipoprotein E (APOE) alleles (ε4 and ε2) and cognitive function in Alzheimer’s disease (AD) across different populations.
- Using data from four cohorts of older adults (60+ years) who self-identified as either non-Hispanic White or non-Hispanic Black, researchers analyzed cognitive outcomes related to memory and executive function.
- Findings suggest significant differences in how APOE ε4 impacts cognitive scores based on sex, with the interactions varying by race, indicating that genetic factors influencing cognition in AD are complex and multifaceted.
Late-onset Alzheimer's disease (LOAD) is a polygenic disorder with a long prodromal phase, making early diagnosis challenging. Twin studies estimate LOAD as 60-80% heritable, and while common genetic variants can account for 30% of this heritability, nearly 70% remains "missing". Polygenic risk scores (PRS) leverage combined effects of many loci to predict LOAD risk, but often lack sensitivity to preclinical disease changes, limiting clinical utility.
View Article and Find Full Text PDFArticle Synopsis
- About 30% of elderly adults show no cognitive impairment at death despite having Alzheimer's disease pathology, which suggests exploring their resilience could lead to new treatments for Alzheimer's.
- The study focuses on understanding sex-specific genetic factors that contribute to resilience against Alzheimer's by analyzing cognitive data and genetic factors from a large cohort across multiple studies.
- The research identified a significant genetic variant on chromosome 10 that is linked to higher resilience scores specifically in females, suggesting that certain genes related to RNA processing may play a role in this resilience.
Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene mutations is far from clear. Here we report a novel SLC6A1 missense mutation in a patient with epilepsy and autism spectrum disorder and characterized the molecular defects of the mutant GAT-1, from transporter protein trafficking to GABA uptake function in heterologous cells and neurons.
View Article and Find Full Text PDFBackground: Mutations in SLC6A1 have been associated mainly with myoclonic atonic epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in a patient with Lennox-Gastaut syndrome (LGS) characterized by severe seizures and developmental delay.
Methods: Exome Sequencing was performed in an epilepsy patient cohort.