Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.

ABSTRACT: Parkinson's disease (PD), the second most common progressive neurodegenerative disorder of aging, was long believed to be a non-genetic sporadic origin syndrome. The proof that several genetic loci are responsible for rare Mendelian forms has represented a revolutionary breakthrough, enabling to reveal molecular mechanisms underlying this debilitating still incurable condition. While single nucleotide polymorphisms (SNPs) and small indels constitute the most commonly investigated DNA variations accounting for only a limited number of PD cases, larger genomic molecular rearrangements have emerged as significant PD-causing mutations, including submicroscopic Copy Number Variations (CNVs). CNVs constitute a prevalent source of genomic variations and substantially participate in each individua

SUBMITTER: La Cognata V 

PROVIDER: S-EPMC5214768 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature