No evidence for involvement of SDHD in neuroblastoma pathogenesis.

ABSTRACT:

Background

Deletions in the long arm of chromosome 11 are observed in a subgroup of advanced stage neuroblastomas with poor outcome. The deleted region harbours the tumour suppressor gene SDHD that is frequently mutated in paraganglioma and pheochromocytoma, which are, like neuroblastoma, tumours originating from the neural crest. In this study, we sought for evidence for involvement of SDHD in neuroblastoma.

Methods

SDHD was investigated on the genome, transcriptome and proteome level using mutation screening, methylation specific PCR, real-time quantitative PCR based homozygous deletion screening and mRNA expression profiling, immunoblotting, functional protein analysis and ultrastructural imaging of the mitochondria.

Results

Analysis at the genomic level of 67 tumo

SUBMITTER: De Preter K 

PROVIDER: S-EPMC517501 | biostudies-literature | 2004 Aug

REPOSITORIES: biostudies-literature