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

Neurobiology of Aging
Richard WüstRejko Krüger

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.

Citations

May 4, 2016·Journal of Neuroimmune Pharmacology : the Official Journal of the Society on NeuroImmune Pharmacology·Roman M LevytskyyOleh Khalimonchuk
Nov 28, 2016·The FEBS Journal·Steven H L Verhelst
Jun 26, 2017·Biochemical and Biophysical Research Communications·Elvira P Leites, Vanessa A Morais
Dec 21, 2017·The Journal of Membrane Biology·Sandra PaschkowskyLisa Marie Munter
Feb 23, 2020·Annual Review of Biochemistry·Soni DeshwalThomas Langer
Oct 21, 2017·Brain : a Journal of Neurology·Julia C FitzgeraldRejko Krüger
Jan 17, 2021·FEBS Letters·Maria Gomez-Fabra Gala, Friederike-Nora Vögtle
May 4, 2017·Biochimica Et Biophysica Acta. Molecular Cell Research·Stefan DüsterhöftMatthew Freeman

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