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Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease
Javier Ruiz-Martínez1, Luis J Azcona1, Alberto Bergareche1
1Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.
Objective:
Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases.
Methods:
In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification.
Results:
Patients were diagnosed with typical PD without relevant distinctive symptoms. Two different novel mutations were identified in the CSMD1 gene. The CSMD1 gene, which encodes a complement control protein that is known to participate in the complement activation and inflammation in the developing CNS, was previously shown to be associated with the risk of PD in a genome-wide association study.
Conclusions:
We conclude that the CSMD1 mutations identified in this study might be responsible for the PD phenotype observed in our examined patients. This, along with previous reported studies, may suggest the complement pathway as an important therapeutic target for PD and other neurodegenerative diseases.
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