Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila. Issue 12 (December 2014)

• Record Type: Journal Article
• Authors: Gregor, Anne; Kramer, Jamie M.; van der Voet, Monique; Schanze, Ina; Uebe, Steffen; Donders, Rogier; Reis, André; Schenck, Annette; Zweier, Christiane
• Is Part Of: Human mutation. Volume 35:Issue 12(2014:Dec.)
• Page Start: 1495
• Page End: 1505
• Publication Date: 2014-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22697
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22697-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We found a de novo duplication of <italic>GPM6A</italic> in a patient with learning disability and behavioral problems. Altered dosage of human GPM6A in patient lymphoblastoid cells caused an increased presence of cells carrying membrane protrusions, while tissue specific dosage manipulation of the fly counterpart M6 resulted in wing defects, lethality and impaired memory in <italic>Drosophila</italic>. We could improve some of these by supplementation of cholesterol. Our findings further emphasize a role of cholesterol in cognitive function and dysfunction. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cpxhwkm" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>