Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways
| Autor: | Luisa Iommarini, Ada Funaro, Stefano Gustincich, Anna Maria Porcelli, Giovanni Stevanin, Alessandro Brussino, Paola Roncaglia, Anna Bartoletti Stella, H Krmac, Giuseppe Gasparre, Cecilia Mancini, Francesca Maltecca, Claudia Cagnoli, Giorgio Casari, Isabelle Le Ber, Sylvie Forlani, Nicola Lo Buono, Maria Antonietta Calvaruso, Alfredo Brusco, Elena Gazzano, Alexandra Durr, Alexis Brice, Dario Ghigo |
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| Přispěvatelé: | Mancini, C, Roncaglia, P, Brussino, A, Stevanin, G, Lo Buono, N, Krmac, H, Maltecca, Francesca, Gazzano, E, Stella, Ab, Calvaruso, Ma, Iommarini, L, Cagnoli, C, Forlani, S, Le Ber, I, Durr, A, Brice, A, Ghigo, D, Casari, GIORGIO NEVIO, Porcelli, Am, Funaro, A, Gasparre, G, Gustincich, S, Brusco, A., Department of Medical Sciences, Università degli studi di Torino = University of Turin (UNITO), Gene Ontology Editorial Office, European Bioinformatics Institute, Neurobiology Sector, Scuola Internazionale Superiore di Studi Avanzati / International School for Advanced Studies (SISSA / ISAS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), San Raffaele Scientific Institute, Vita-Salute San Raffaele University and Center for Translational Genomics and Bioinformatics, Department of Oncology, Department Medical and Surgical Sciences, Medical Genetics, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Department of Pharmacy and Biotechnologies (FABIT), Medical Genetics Unit, 'Città della Salute e della Scienza' Hospital, This work was funded by Telethon Research grant GGP07110 and GGP12217 (to A Brusco), Regione Piemonte Ricerca Sanitaria Finalizzata, the European Union (to the EUROSCA consortium), the VERUM foundation (to A Brice) and the Programme Hospitalier de Recherche Clinique (to A Durr)., Università degli studi di Torino (UNITO), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), BMC, Ed., Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A |
| Jazyk: | angličtina |
| Předmět: |
Respiratory chain
Apoptosis Gene mutation GTP Phosphohydrolases 0302 clinical medicine ATP-Dependent Proteases Settore BIO/13 - Biologia Applicata Gene expression Genetics(clinical) Autosomal dominant cerebellar ataxia Spinocerebellar ataxia SCA28 AFG3L2 Genome-wide expression LCLs Genetics (clinical) Spinocerebellar Degenerations 0303 health sciences Cell biology Mitochondria ataxia mitochondria DNA-Binding Proteins Phenotype [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN] Chemical homeostasis Microtubule-Associated Proteins Research Article Dynamins Biology Mitochondrial Proteins 03 medical and health sciences [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN] Cell Line Tumor Genetics Humans Spinocerebellar Ataxias Gene 030304 developmental biology Cell Proliferation Cell growth Genome Human Gene Expression Profiling TFAM Molecular biology G1 Phase Cell Cycle Checkpoints Gene expression profiling ATPases Associated with Diverse Cellular Activities Lipid Peroxidation 030217 neurology & neurosurgery Transcription Factors |
| Zdroj: | BMC Medical Genomics BMC Medical Genomics, 2013, 6 (1), pp.22. ⟨10.1186/1755-8794-6-22⟩ BMC Medical Genomics, BioMed Central, 2013, 6 (1), pp.22. ⟨10.1186/1755-8794-6-22⟩ |
| ISSN: | 1755-8794 |
| DOI: | 10.1186/1755-8794-6-22 |
| Popis: | Background SCA28 is an autosomal dominant ataxia associated with AFG3L2 gene mutations. We performed a whole genome expression profiling using lymphoblastoid cell lines (LCLs) from four SCA28 patients and six unrelated healthy controls matched for sex and age. Methods Gene expression was evaluated with the Affymetrix GeneChip Human Genome U133A 2.0 Arrays and data were validated by real-time PCR. Results We found 66 genes whose expression was statistically different in SCA28 LCLs, 35 of which were up-regulated and 31 down-regulated. The differentially expressed genes were clustered in five functional categories: (1) regulation of cell proliferation; (2) regulation of programmed cell death; (3) response to oxidative stress; (4) cell adhesion, and (5) chemical homeostasis. To validate these data, we performed functional experiments that proved an impaired SCA28 LCLs growth compared to controls (p Conclusions Whole genome expression profiling, performed on SCA28 LCLs, allowed us to identify five altered functional categories that characterize the SCA28 LCLs phenotype, the first reported in human cells to our knowledge. |
| Databáze: | OpenAIRE |
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