Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes. Issue 8 (24th June 2014)

• Record Type: Journal Article
• Authors: Gallardo, Eduard; Ankala, Arunkanth; Núñez‐Álvarez, Yaiza; Hegde, Madhuri; Diaz‐Manera, Jordi; Luna, Noemí De; Pastoret, Ana; Suelves, Mònica; Illa, Isabel
• Is Part Of: Human mutation. Volume 35:Issue 8(2014:Aug.)
• Page Start: 990
• Page End: 997
• Publication Date: 2014-06-24
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22591
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22591-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The study of dysferlin expression in monocytes of a cohort of 149 healthy volunteers showed an incidence of reduced levels (within the carrier range) of the protein higher than expected. However, only 2.7% of them presented a mutation in <italic>DYSF</italic>. DNA methylation was normal in all samples tested. Our results suggest that factors other than genetic or epigenetic changes can also influence dysferlin expression and that molecular analysis of <italic>DYSF</italic> must be performed to determine the carrier status of an individual. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pght8nc5hk" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>