[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].

Abstract

PURPOSE:

The purpose of this study was to investigate the somatic mutations of human mitochondria succinate dehydrogenase subunit B (SDHB) in sporadic paragangliomas.

METHODS:

Eight exons of SDHB gene in 8 sporadic paragangliomas cases were amplified by PCR and sequenced, respectively. The sequences were analyzed to find mutations compared with human homology sequence in Genebank and SNP database.

RESULTS:

Nine sequence variations were found in 8 cases, in which one mutation was found in one case (1/8, 12.5%). The mutation was identified as the sixty four base pair in exon 2 of SDHB(c.136C>T), resulting in a change from a arginine to a stop codon (p.Arg90X). The left 8 variations were polymorphisms.

CONCLUSIONS:

The mutation of SDHB exists in sporadic paragangliomas patients and it might play a significant role in paragangliomas tumorigenesis.

• Authors: Ting-jian Zu, Mu-yun Jia, Rong-tao Yuan, Ling-xue Bu, Ru-yong Yao
• Journal: Shanghai kou qiang yi xue = Shanghai journal of stomatology (Shanghai Kou Qiang Yi Xue) Vol. 20 Issue 4 Pg. 413-6 (Aug 2011) ISSN: 1006-7248 [Print] China
• PMID: 21909610 (Publication Type: Journal Article)

Chemical References

• Succinates
• Succinic Acid
• SDHB protein, human
• Succinate Dehydrogenase

Topics

• DNA Mutational Analysis
• Germ-Line Mutation
• Humans
• Mutation
• Paraganglioma
• Succinate Dehydrogenase
• Succinates
• Succinic Acid