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.

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