In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 68, No. 2 ( 2007), p. 68-71
Abstract:
The 〈 i 〉 SDHA, SDHB, SDHC, 〈 /i 〉 and 〈 i 〉 SDHD 〈 /i 〉 genes code for subunits of succinate dehydrogenase (SDH), which forms part of the mitochondrial respiratory chain. Germline mutations in the genes encoding SDHB and SDHD have been reported in familial paragangliomas/pheochromocytomas and in apparently sporadic pheochromocytomas. 〈 i 〉 SDHB 〈 /i 〉 and 〈 i 〉 SDHD 〈 /i 〉 mutations are widely distributed along the genes with no apparent hot spots. 〈 i 〉 SDHB 〈 /i 〉 mutations are often detected in malignant and extra-adrenal pheochromocytomas. 〈 i 〉 SDHD 〈 /i 〉 mutations are also detected frequently in head and neck paragangliomas. We sequenced the entire coding regions of the 〈 i 〉 SDHB 〈 /i 〉 and 〈 i 〉 SDHD 〈 /i 〉 genes in 17 pheochromocytomas. Weidentified novel heterozygous G to A point mutations at the first base of intron 3 of the 〈 i 〉 SDHB 〈 /i 〉 gene in a malignant extra-adrenal abdominal pheochromocytoma patient, and at the first base of codon 111 of the 〈 i 〉 SDHD 〈 /i 〉 gene in an adrenal pheochromocytoma patient. Further, we confirmed the 〈 i 〉 SDHD 〈 /i 〉 mutation by DHPLC. The prevalence of SDHB and 〈 i 〉 SDHD 〈 /i 〉 mutations in pheochromocytomas we examined was 12% (2/17). Thus, we identified two novel SDH mutations in Japanese pheochromocytomas. Further studies will investigate the oncogenic potential of these mutations.
Type of Medium:
Online Resource
ISSN:
1663-2818
,
1663-2826
Language:
English
Publisher:
S. Karger AG
Publication Date:
2007
detail.hit.zdb_id:
2540224-9
detail.hit.zdb_id:
2537278-6
