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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

ABSTRACT: 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.Gene expression was evaluated with the Affymetrix GeneChip Human Genome U133A 2.0 Arrays and data were validated by real-time PCR.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?

SUBMITTER: Mancini C

PROVIDER: S-EPMC3689607 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

Mancini Cecilia C Roncaglia Paola P Brussino Alessandro A Stevanin Giovanni G Lo Buono Nicola N Krmac Helena H Maltecca Francesca F Gazzano Elena E Bartoletti Stella Anna A Calvaruso Maria Antonietta MA Iommarini Luisa L Cagnoli Claudia C Forlani Sylvie S Le Ber Isabelle I Durr Alexandra A Brice Alexis A Ghigo Dario D Casari Giorgio G Porcelli Anna Maria AM Funaro Ada A Gasparre Giuseppe G Gustincich Stefano S Brusco Alfredo A

BMC medical genomics 20130618

<h4>Background</h4>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.<h4>Methods</h4>Gene expression was evaluated with the Affymetrix GeneChip Human Genome U133A 2.0 Arrays and data were validated by real-time PCR.<h4>Results</h4>We found 66 genes whose expression was statistically different in SCA2 ...[more]

PMID: 23777634

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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

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