Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.

"the transcriptional profiles generated from all fibroblasts showed comparable quality control parameters with an average of 42 3% of transcripts called as present in sals fibroblasts42 4% in pls fibroblasts and 42 3% in control fibroblasts (cel files have been submitted to the gene expression omnibus repository accession gse56808)."

"Author contributionsRR – designed and performed experiments, analysed data, wrote sections of manuscript.SPA – designed and performed metabolic experiments, analysed data, wrote sections of manuscript.EFG – designed and performed microRNA experiments, analysed data, wrote sections of manuscript.SK – extracted RNA and performed microarray experiments.LLP – extracted RNA and performed microarray experiments.PRH – supervised microarray experiments and qPCR experiments.MM – supervised microarray and microRNA data analysis.HCH – consented and collected skin biopsies from patients and controls.TW – consented and collected skin biopsies from patients and controls.JRH – cultured fibroblasts and analysed microarray data.SO – generated fibroblasts from skin biopsies.CJM – supervisor to RR, designed study, provided patient samples and clinical data.PJS – supervisor to RR, SPA, EFG, SK and LLP, designed study, provided patient samples and clinical data, editor of manuscript.JK – supervisor to RR, EFG, SK and LLP, designed study, analysed data, wrote sections of manuscript and editor of manuscript.The authors have no conflicts of interest."

"We would like to thank all the ALS and PLS patients and controls who donated biosamples for our research. This work was supported by the Spastic Paraplegia Foundation (JK, PJS, RR), Medical Research Council Dorothy Hodgkin Postgraduate Award (RR), Motor Neuron Disease Association (Goodall/Oct10/6066 to EFG, JK, PJS), Motor Neuron Disease Association/Medical Research Council Lady Edith Wolfson Fellowship (G0800380 to JRH) and European Union under the 7th Framework Program for RTD – Project MitoTarget – Grant Agreement HEALTH-F2-2008-223388 (SPA, PJS). PJS and JK are also supported by the European Community‘s Seventh Framework Programme (FP7/2007-2013) under the grant agreement no. 259867 (Euro-MOTOR) and JRH, PJS and JK are supported by the EU Joint Programme – Neurodegenerative Disease Research (JPND), Sampling and biomarker OPtimization and Harmonization In ALS and other motor neuron diseases (SOPHIA). This is an EU Joint Programme – Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organizations under the aegis of JPND – http://www.jpnd.eu: France, Agence Nationale de la Recherche (ANR); Germany, Bundesministerium für Bildung und Forschung (BMBF); Ireland, Health Research Board (HRB); Italy, Ministero della Salute; The Netherlands, The Netherlands Organisation for Health Research and Development (ZonMw); Poland, Narodowe Centrum Badań i Rozwoju; Portugal, Fundação a Ciência e a Tecnologia; Spain, Ministerio de Ciencia e Innovación; Switzerland, Schweizerischer Nationalfonds zur Förderung der wissenschaftlichen Forschung (SNF); Turkey, Tübitak; United Kingdom, Medical Research Council (MRC). PJS is supported by NIHR as a Senior Investigator."