Article ID Journal Published Year Pages File Type
1942611 Biochimica et Biophysica Acta (BBA) - Bioenergetics 2011 12 Pages PDF
Abstract

The SDHA, SDHB, SDHC, SDHD genes encode the four subunits of succinate dehydrogenase (SDH; mitochondrial complex II), a mitochondrial enzyme involved in two essential energy-producing metabolic processes of the cell, the Krebs cycle and the electron transport chain. Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC) through a mechanism which is largely unknown. Owing to the central function of SDH in cellular energy metabolism it is important to understand its role in tumor suppression. Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis.

► Germline loss-of-function mutations in any of the SDH genes cause HPGL/PCC syndrome. ► Germline loss-of-function mutations in SDHAF2 gene cause HPGL/PCC syndrome. ► SDH deficiency induces pseudohypoxia. ► Succinate accumulation might inhibits α-ketoglutarate-dependent dioxygenases.

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