Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

ABSTRACT:

Background

Mitochondrial dysfunction plays a key role in PD, but the underlying molecular mechanisms remain unresolved. We hypothesized that the disruption of mitochondrial function in PD is primed by rare, protein-altering variation in nuclear genes controlling mitochondrial structure and function.

Objective

The objective of this study was to assess whether genetic variation in genes associated with mitochondrial function influences the risk of idiopathic PD.

Methods

We employed whole-exome sequencing data from 2 independent cohorts of clinically validated idiopathic PD and controls, the Norwegian ParkWest cohort (n = 411) and the North American Parkinson's Progression Markers Initiative (n = 640). We applied burden-based and variance-based collapsing methods to asse

SUBMITTER: Gaare JJ 

PROVIDER: S-EPMC6282592 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature