Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Transcription profiling of mouse at ages P4 and P60 in sciatic nerve of wild type and with peripheral neuropathies to study disease mechanisms in peripheral neuropathies due to altered Pmp22 gene dosage or a Pmp22 point mutation

ABSTRACT: We compared gene expression at ages P4 and P60 in sciatic nerve of wild type mice and mice with peripheral neuropathies caused by altered Pmp22 gene dosage (homozygous knockout or transgene) or a point mutation (Trembler).

ORGANISM(S): Mus musculus

DISEASE(S): peripheral neuropathy

SUBMITTER: Ned Mantei

PROVIDER: E-GEOD-1947 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.

Giambonini-Brugnoli Guya G Buchstaller Johanna J Sommer Lukas L Suter Ueli U Mantei Ned N

Neurobiology of disease 20050401 3

Point mutations affecting PMP22 can cause hereditary demyelinating and dysmyelinating peripheral neuropathies. In addition, duplication and deletion of PMP22 are associated with Charcot-Marie-Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), respectively. This study was designed to elucidate disease processes caused by misexpression of Pmp22 and, at the same time, to gain further information on the controversial molecular function of PMP22. To this ...[more]

PMID: 15755691

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Project description:Hereditary Motor and Sensory Neuropathies (HMSN) are the most common inherited peripheral neuropathies and comprise a group of genetically heterogeneous diseases. We study the genetic defects causing three demyelinating disorders: HMSN1A, HMSN-LOM and congenital cateracts facial dysmophism neuropathy (CCFDN) syndrome, which are caused by mutations in PMP22, NDRG1 and CTDP1, respectively. The function and patho-mechanisms of these genes is still unknown. To identify effects downstream of the mutations, thereby possibly involved in the disease process, we used Serial expression of gene expression (SAGE) and microarray analysis. We analyzed human Schwann cell lines from three normal subjects, one HMSN-LOM patient, two HMSN-1A patients and two CCFDN patients and compared our data to a recent dataset of human Schwann cells (4 normal subjects passage 1 vs. 3, GDS1869/GSE4030 M.B. Bunge, 2006). We excluded genes that were not consistently regulated between biological and technical replicates and genes that were found to be influenced by passage number (p<0.05). Comparing expression profiles of demyelinating neuropathies with different mutations we identified: 1. expression signatures specific for each genotype. 2. Genes commonly (dys)regulated in all screened neuropathies. Interestingly, these include genes that play a role in reorganization of sodium channels in central and peripheral nerves (S100A10, CD90), or extracellular matrix remodeling (e.g. TGFBI, SERPINE1, THBS1). We also found high up-regulation of genes involved in Schwann cell lineage and in particular, genes that are associated with an immature or pre-myelinating Schwann cell phenotype (i.e. Sox2, Sox10, COL18A1, TFAP2A, Pax3, CDH19). Our study shows that many genes, possibly contributing to nerve pathology can be identified by this approach. Experiment Overall Design: Experimental design: in total 12 (two-color) arrays were run. All neuropathy samples were in duplicate (technical replicates). Two CCFDN and two HMSN1A patients were also analyzed as biological replicates. Three healthy subjects were included from which one was in duplicate. All samples (Cy3) were compared to a common reference pool (Cy5) which consisted of a mix of all samples.

Dataset Information

Transcription profiling of mouse at ages P4 and P60 in sciatic nerve of wild type and with peripheral neuropathies to study disease mechanisms in peripheral neuropathies due to altered Pmp22 gene dosage or a Pmp22 point mutation

Publications

Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.

Similar Datasets

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