TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.

ABSTRACT:

Background

X-linked dystonia-parkinsonism is a rare neurological disease endemic to the Philippines. Dystonic symptoms appear in males at the mean age of 40 years and progress to parkinsonism with degenerative pathology in the striatum. A retrotransposon inserted in intron 32 of the TAF1 gene leads to alternative splicing in the region and a reduction of the full-length mRNA transcript.

Objectives

The objective of this study was to discover cell-based and biofluid-based biomarkers for X-linked dystonia-parkinsonism.

Methods

RNA from patient-derived neural progenitor cells and their secreted extracellular vesicles were used to screen for dysregulation of TAF1 expression. Droplet-digital polymerase chain reaction was used to quantify the expression of TAF1 mRNA fragment

SUBMITTER: Al Ali J 

PROVIDER: S-EPMC7891430 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature