biostudies-literatureMancini CTelethon22https://www.ebi.ac.uk/biostudies/studies/S-EPMC3689607biostudies-literatureUnknown6<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 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 homeostasBMC medical genomicsGenome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.PMC3689607GGP07110GGP12217Mancini CRoncaglia PBrice ABrusco AStevanin GBartoletti Stella ACagnoli CLe Ber IIommarini LGustincich SFunaro AGasparre GMaltecca FCalvaruso MABrussino AGazzano EPorcelli AMKrmac HForlani SDurr AGhigo DCasari GLo Buono NfalseGenome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.<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 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 homeostas2013-01-01T00:00:00Z2013 Jun2026-05-30T12:57:59.853Z2026-04-08T07:18:56.417ZS-EPMC36896072377763410.1186/1755-8794-6-22