title: Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.
abstract: BACKGROUND
  Paragangliomas are benign, slow-growing tumours of the head and neck region. The candidate gene for familial and some sporadic paragangliomas, SDHD (succinate dehydrogenase, subunit D), has been mapped to the PGL1 locus in 11q23.3.
  
  
  METHODS
  Normal and tumour DNA of 17 patients with sporadic paragangliomas were analysed by sequencing (SDHD, SDHB and SDHC genes), fluorescence in situ hybridisation (FISH). In addition, loss of heterozygosity (LOH) and succinate dehydrogenase (SDH) enzyme activity assays were performed.
  
  
  CONCLUSIONS
  Only two patients from our collective showed SDH gene mutations, one in SDHD and one in SDHB, respectively. Moreover, SDH activity detected in 5/8 patients confirmed the fact that SDH inactivation is not a major event in sporadic paragangliomas. LOH and FISH analysis demonstrated a frequent loss of regions within chromosome 11, indicating that additional genes in 11q may play a role in tumour genesis of sporadic paragangliomas.
authors.affiliation: Institute of Anthropology and Human Genetics, Division of Molecular Genetics, University of Tübingen, Germany.
authors.forename: Simone
authors.initials: S
authors.lastname: Braun
authors.forename: Kathrin
authors.initials: K
authors.lastname: Riemann
authors.forename: Susan
authors.initials: S
authors.lastname: Kupka
authors.forename: Peter
authors.initials: P
authors.lastname: Leistenschneider
authors.forename: Karl
authors.initials: K
authors.lastname: Sotlar
authors.forename: Heide
authors.initials: H
authors.lastname: Schmid
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Blin
mesh_terms: D002345:Carotid Body Tumor / Q000201:enzymology / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005925:Glomus Jugulare Tumor / Q000201:enzymology / Q000235:genetics; D043604:Glomus Tympanicum Tumor / Q000201:enzymology / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D019656:Loss of Heterozygosity; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D016612:Paraffin Embedding; D010236:Paraganglioma, Extra-Adrenal / Q000201:enzymology* / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics* / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase