Mutation analyses and association studies to assess the role of the presenilin-associated rhomboid-like gene in Parkinson's disease

Richard Wüst, Brigitte Maurer, Kathrin Hauser, Dirk Woitalla, Manu Sharma, Rejko Krüger*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Abstract

Presenilin-associated rhomboid-like (PARL), a serine protease located in the inner mitochondrial membrane, has been shown to genetically interact and process PTEN-induced putative kinase a protein known for its critical role in mitochondrial homeostasis and early-onset forms of Parkinson's disease (PD). The identification of a PD-associated variant in the PARL gene (p.Ser77Asn) led us to assess the relevance of PARL for PD pathogenesis using a mutation screening of the coding sequences and adjacent intronic sequences. We investigated 3 single nucleotide polymorphisms (rs3792589, rs13091, and rs3732581), a synonymous base substitution (Leu79Leu) and the previously described p.Ser77Asn mutation, which were subsequently screened in more than 2000 patients and controls. Not detecting the p.Ser77Asn mutation in our cohort, nor a robust association between variations in the PARL gene and PD, the role of disease causing genetic variants in the PARL gene could not be further substantiated in our samples. Our findings indicate that PARL mutations are a rare cause of PD and genetic variants are neither strong nor common risk factors in PD.

Original languageEnglish
Pages (from-to)217.e13-217.e15
JournalNeurobiology of Aging
Volume39
DOIs
Publication statusPublished - 1 Mar 2016
Externally publishedYes

Keywords

  • PARL
  • PD genetic study
  • PINK1/Parkin pathway
  • Parkinson's disease

Fingerprint

Dive into the research topics of 'Mutation analyses and association studies to assess the role of the presenilin-associated rhomboid-like gene in Parkinson's disease'. Together they form a unique fingerprint.

Cite this