Detection of cryptic exons (splicing differences) in TDP-43 as biomarkers for frontotemporal dementia and Alzheimer's disease

National Institute On Aging

Investigators

Abstract

We have successfully completed objectives 1 and 2 for this project. Our current efforts are focused on objective 3: identifying the main cryptic exon candidates in human CSF and plasma samples. We have obtained more than 200 samples of human CSF from patients with ALS, progressive supranuclear palsy (PSP), and control cases to determine if TDP-43 cryptic exons are present in diseased but not control patients. We have detected 65 candidate cryptic exons and are performing two-dimensional targeted mass spectrometry to identify lead cryptic peptide candidates. CARD Advanced analytics has worked to maintain and automate pipelines for this project as well as provide data management and statistical support for this project.