Transcription profiling of human Schwann cells FROM HMSN1A, HMSN-LOM AND congenital cateracts facial dysmophism neuropathy (CCFDN) syndrome TO identify down-stream effects IN demyelinating neuropathies

ABSTRACT: 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 d

ORGANISM(S): Homo sapiens

SUBMITTER: Marcel Kwa 

PROVIDER: E-GEOD-7423 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress