Figure 2.

Genetic and metabolic dysfunction of the SDH complex and its link to diseases. For instance, SDHB mutations lead to the development of paraganglioma (PGL), pheochromocytoma (PCC), ovarian cancer, colorectal cancer, gastrointestinal tumors (GISTs), and other cancers. Similarly, SDHB mutations can cause non-cancer diseases such as leukodystrophy and premature aging. Another way that abnormal SDH activity causes the disease is through its metabolic dysfunction, as seen with decreased activities of SDHA and SDHB through epigenetic modification causing acute mountain sickness.