The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity

Title:The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity

Volume: 18 Issue: 7

Author(s): David N. Hauser, Christopher T. Primiani and Mark R. Cookson*

Affiliation:

• Cell Biology and Gene Expression Section, NIA, Building 35, Room 1A116, 5 Convent Drive, MSC 3707, Bethesda, MD 20892-3707,United States

Keywords: Variants, parkin, PINK1, DJ-1, pathogenicity, phenotype.

Abstract: Early onset Parkinson’s disease can be caused by variants in the PINK1, Parkin, and DJ-1 genes. Since their initial discoveries, hundreds of variants have been found in these genes that are associated with a Parkinsonian phenotype. This review will briefly discuss the functions of the protein products of the three genes, then focus on the effects that disease associated variants have on these functions. We will also discuss how experimental findings can help decide whether individual variants are pathogenic or not.

Cite this article as:

Hauser N. David, Primiani T. Christopher and Cookson R. Mark*, The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity, Current Protein & Peptide Science 2017; 18 (7) . https://dx.doi.org/10.2174/1389203717666160311121954