Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

Bouchra Ouled Amar Bencheikh; Etienne Leveille; Jennifer A Ruskey; Dan Spiegelman; Christopher Liong; Edward A Fon; Guy A Rouleau; Yves Dauvilliers; Nicolas Dupre; Roy N Alcalay; Ziv Gan-Or

doi:10.1016/j.neurobiolaging.2018.06.034

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

Neurobiol Aging. 2018 Dec:72:187.e1-187.e3. doi: 10.1016/j.neurobiolaging.2018.06.034. Epub 2018 Jul 2.

Authors

Affiliations

¹ Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Centre de Recherche, Centre Hospitalier de l'Universite de Montreal, Montreal, Canada.
² Faculty of Medicine, McGill University, Montréal, QC, Canada.
³ Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.
⁴ Montreal Neurological Institute, McGill University, Montréal, QC, Canada.
⁵ Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
⁶ Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; McGill Parkinson Program and Neurodegenerative Diseases Group, Montreal Neurological Institute, McGill University, Montréal, QC, Canada.
⁷ Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; Department of Human Genetics, McGill University, Montréal, QC, Canada.
⁸ Department of Neurology Hôpital-Gui-de Chauliac, Sleep Unit, National Reference Network for Narcolepsy, CHU Montpellier, INSERM U1061, Montpellier, France.
⁹ Axe neurosciences du CHU de Québec - Université Laval, Québec, QC, Canada; Faculty of Medicine, Department of Medicine, Laval University, Québec, QC, Canada.
¹⁰ Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
¹¹ Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; McGill Parkinson Program and Neurodegenerative Diseases Group, Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Human Genetics, McGill University, Montréal, QC, Canada. Electronic address: ziv.gan-or@mcgill.ca.

PMID: 30037697
PMCID: PMC6215722
DOI: 10.1016/j.neurobiolaging.2018.06.034

Abstract

Saposin C (SapC), encoded by PSAP, is required for the activity of glucocerebrosidase, encoded by GBA. Although GBA mutations have been studied thoroughly in Parkinson disease (PD), genetic studies on SapC are still lacking. PSAP was sequenced in 1123 PD patients and 1153 controls, and data from additional 1167 patients and 1685 controls were examined. A total of 6 patients had SapC mutations in the 2 combined cohorts, but no statistically significant association after correction for multiple comparisons was found. Larger studies are necessary to examine the role of very rare SapC variants in PD.

Keywords: GBA; Genetics; Parkinson's disease; Saposin C.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Cohort Studies
Glucosylceramidase / genetics*
Humans
Parkinson Disease / genetics*
Saposins / genetics*
Sequence Analysis, DNA

Substances

PSAP protein, human
Saposins
GBA protein, human
Glucosylceramidase

Abstract

Publication types

MeSH terms

Substances

Grants and funding