Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.
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.
Braun
Simone
S
Institute of Anthropology and Human Genetics, Division of Molecular Genetics, University of Tübingen, Germany.
Riemann
Kathrin
K
Kupka
Susan
S
Leistenschneider
Peter
P
Sotlar
Karl
K
Schmid
Heide
H
Blin
Nikolaus
N
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
D008565:Membrane Proteins; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase