Genetic variability of the retromer cargo recognition complex in parkinsonism. Issue 4 (5th December 2014)

• Record Type: Journal Article
• Authors: Gustavsson, Emil K.; Guella, Ilaria; Trinh, Joanne; Szu‐Tu, Chelsea; Rajput, Alex; Rajput, Ali H.; Steele, John C.; McKeown, Martin; Jeon, Beom S.; Aasly, Jan O.; Farrer, Matthew J.
• Is Part Of: Movement disorders. Volume 30:Issue 4(2015)
• Page Start: 580
• Page End: 584
• Publication Date: 2014-12-05
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.26104
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="mds26104-sec-0001" sec-type="section"> <title>Background</title> <p>A pathogenic mutation (VPS35 p.D620N) within the retromer complex has been shown to segregate with late‐onset Parkinson's disease (PD). Several studies have subsequently detected the mutation in patients with PD and not in controls.</p> </sec> <sec id="mds26104-sec-0002" sec-type="section"> <title>Methods</title> <p>Mutation screening of the coding regions of the retromer cargo recognition complex genes (<italic>VPS26A/B</italic>, <italic>VPS29</italic>, and <italic>VPS35</italic>) was carried out in patients with PD (n = 396), atypical parkinsonism (n = 229), and in 368 controls.</p> </sec> <sec id="mds26104-sec-0003" sec-type="section"> <title>Results</title> <p>Overall, we identified five rare nonsynonymous mutations in <italic>VPS26A</italic> and one in <italic>VPS35</italic>; none were observed in <italic>VPS26B</italic> or <italic>VPS29</italic>. Three <italic>VPS26A</italic> variants (p.K93E, p.M112V, and p.K297X), identified in patients with atypical parkinsonism, were not observed in controls from this study (n = 368) or from publically available data sets (n = 4, 426).</p> </sec> <sec id="mds26104-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our results support the hypothesis that rare variants in the retromer complex genes may be involved in the development of parkinsonism, although further studies are warranted before any solid conclusions can be drawn. © 2014 International Parkinson and Movement Disorder Society</p> </sec> </abstract>