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Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia  Dario Ronchi, Elisa Fassone, Andreina Bordoni, Monica Sciacco,

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Presentation on theme: "Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia  Dario Ronchi, Elisa Fassone, Andreina Bordoni, Monica Sciacco,"— Presentation transcript:

1 Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia 
Dario Ronchi, Elisa Fassone, Andreina Bordoni, Monica Sciacco, Valeria Lucchini, Alessio Di Fonzo, Mafalda Rizzuti, Irene Colombo, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Alessandra Cosi, Martina Collotta, Stefania Corti, Nereo Bresolin, Giacomo P. Comi  Journal of the Neurological Sciences  Volume 308, Issue 1, Pages (September 2011) DOI: /j.jns Copyright © 2011 Elsevier B.V. Terms and Conditions

2 Fig. 1 A: Histochemical double staining for COX and SDH shows severe COX deficiency and evidence of RRFs (Patient 2, 40X). B: Southern blot analysis of muscle-derived mtDNA of Patient 2, two positive controls (POLG1-mutated patients) and a negative control (adult healthy subject). The black arrow indicates wild type molecules of 16.6kb. The red arrow indicates bands with a lower molecular weight corresponding to deleted mitochondrial genomes. C: PCR analysis of muscle-derived mtDNA of Patient 2, two positive controls and a negative control. Red arrows indicate products of amplification corresponding to deleted mitochondrial genomes. D: Electropherograms showing novel variants identified in Patient 1 (c.1133T>C) and Patient 2 (c.1609T>C) resulting in p.Leu378Pro and p.Tyr537His, respectively. The affected residues in the Twinkle protein are highly conserved in different species. Hs: Homo sapiens, MaMu: Macaca mulatta; Mm: Mus musculus; Cf: Canis familiaris; Ec: Equus caballus; Xl; Xenopus laevis; Dm: Drosophila melanogaster. Journal of the Neurological Sciences  , DOI: ( /j.jns ) Copyright © 2011 Elsevier B.V. Terms and Conditions

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