| Scientific background: |
SDHB(Succinate Dehydrogenase Complex, Subunit B, iron sulfur protein), also known as iron-sulfur subunit of complex II (Ip) or SDH2, HOMOLOG OF, is a protein that in humans is encoded by the SDHB gene. SDHB is one of four protein subunits forming succinate dehydrogenase, the other three being SDHA, SDHC and SDHD. The SDHB subunit is connected to the SDHA subunit on the hydrophilic, catalytic end of the SDH complex. The SDHB gene is mapped on 1p36.13. The entire SDHB transcript is encoded by 8 exons within approximately 40 kb by Au et al(1995). Pollard et al.(2005) stated that the nuclear-encoded Krebs cycle enzymes fumarate hydratase and succinate dehydrogenases like SDHB act as tumor suppressors, and germline mutations in these genes predispose individuals to leiomyomas and renal cancer and to paragangliomas, respectively. In affected members of families with paragangliomas-4, mutations were identified in the SDHB gene . |
| References: |
1.Au, H. C., Ream-Robinson, D., Bellew, L. A., Broomfield, P. L. E., Saghbini, M., Scheffler, I. E. Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase. Gene 159: 249-253, 1995.
2.Brouwers, F. M., Eisenhofer, G., Tao, J. J., Kant, J. A., Adams, K. T., Linehan, W. M., Pacak, K. High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. J. Clin. Endocr. Metab. 91: 4505-4509, 2006.
3.Pollard, P. J., Briere, J. J., Alam, N. A., Barwell, J., Barclay, E., Wortham, N. C., Hunt, T., Mitchell, M., Olpin, S., Moat, S. J., Hargreaves, I. P., Heales, S. J., and 9 others.Accumulation of Krebs cycle intermediates and over-expression of HIF1-alpha in tumours which result from germline FH and SDH mutations. Hum. Molec. Genet. 14: 2231-2239, 2005.
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