TY  - JOUR
AU  - Wüst, Richard
AU  - Maurer, Brigitte
AU  - Hauser, Kathrin
AU  - Woitalla, Dirk
AU  - Sharma, Manu
AU  - Krüger, Rejko
TI  - Mutation analyses and association studies to assess the role of the presenilin-associated rhomboid-like gene in Parkinson's disease.
JO  - Neurobiology of aging
VL  - 39
SN  - 0197-4580
CY  - Amsterdam [u.a.]
PB  - Elsevier Science
M1  - DZNE-2020-04723
SP  - 217.e13-217.e15
PY  - 2016
AB  - 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.
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Variation
KW  - Humans
KW  - Male
KW  - Metalloproteases: genetics
KW  - Metalloproteases: physiology
KW  - Mitochondrial Proteins: genetics
KW  - Mitochondrial Proteins: physiology
KW  - Parkinson Disease: genetics
KW  - Polymorphism, Single Nucleotide
KW  - Mitochondrial Proteins (NLM Chemicals)
KW  - Metalloproteases (NLM Chemicals)
KW  - PARL protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:26778534
DO  - DOI:10.1016/j.neurobiolaging.2015.11.025
UR  - https://pub.dzne.de/record/138401
ER  -