Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

Barbara Shannon, Alexandra Soto-Ortolaza, Sruti Rayaprolu, Heather D. Cannon, Catherine Labbé, Bruno A. Benitez, Jiyoon Choi, Timothy Lynch, Magdalena Boczarska-Jedynak, Grzegorz Opala, Anna Krygowska-Wajs, Maria Barcikowska, Jay A. Van Gerpen, Ryan J. Uitti, Wolfdieter Springer, Carlos Cruchaga, Zbigniew K. Wszolek, Owen A. Ross

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

We recently showed that mutation of the VPS35 gene can cause late-onset Parkinson's disease. In the present study we sequenced 702 affected subjects from the Mayo Clinic Parkinson's disease patient-control series for the VPS29 and VPS26A/B genes. We identified only 2 rare nonsynonymous variants in the VPS26A p.K93E and VPS29 p.N72H. The results show that mutations in the genes composing the retromer cargo recognition subunit are not a common cause of Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)1958.e1-1958.e2
JournalNeurobiology of aging
Volume35
Issue number8
DOIs
StatePublished - Aug 2014

Keywords

  • Genetics
  • Parkinson's disease and/or Parkinsonism
  • Retromer
  • VPS35

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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    Shannon, B., Soto-Ortolaza, A., Rayaprolu, S., Cannon, H. D., Labbé, C., Benitez, B. A., Choi, J., Lynch, T., Boczarska-Jedynak, M., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Van Gerpen, J. A., Uitti, R. J., Springer, W., Cruchaga, C., Wszolek, Z. K., & Ross, O. A. (2014). Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease. Neurobiology of aging, 35(8), 1958.e1-1958.e2. https://doi.org/10.1016/j.neurobiolaging.2014.03.004