A Novel in‐Frame 18‐bp Microdeletion in MT‐CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance. Issue 8 (28th June 2014)

• Record Type: Journal Article
• Authors: Carossa, Valeria; Ghelli, Anna; Tropeano, Concetta Valentina; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Caporali, Leonardo; La Morgia, Chiara; Liguori, Rocco; Barboni, Piero; Carbonelli, Michele; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Martinuzzi, Andrea; De Nardo, Vera; Rugolo, Michela; Ferretti, Luca; Gandini, Francesca; Pala, Maria; Achilli, Alessandro; Olivieri, Anna; Torroni, Antonio; Carelli, Valerio
• Is Part Of: Human mutation. Volume 35:Issue 8(2014:Aug.)
• Page Start: 954
• Page End: 958
• Publication Date: 2014-06-28
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22596
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22596-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>This study shows that a complex multisystem disorder with prominent exercise intolerance is associated with an 18‐bp mtDNA deletion in the <italic>MT‐CYB</italic> gene (m.15649_15666del18). This rearrangement, which involves two identical six bp direct repeats located 12‐bp apart from each other, causes the loss of six amino acids in the protein, but leaves the remaining of the <italic>MT‐CYB</italic> sequence in frame. Cybrid studies revealed that the defective complex III function was cotransferred with mutant mtDNA, thus unequivocally establishing the pathogenic role of the deletion. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pght8nc5j3" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>