SDHA, or succinate dehydrogenase subunit A, is a subunit of the mitochondrial enzyme complex II, which is part of the electron transport chain and the tricarboxylic acid (TCA) cycle. This enzyme complex is crucial for cellular respiration, and SDHA plays a key role in the conversion of succinate to fumarate while transferring electrons to ubiquinone. Mutations in the SDHA gene can lead to various types of tumors, including paragangliomas and pheochromocytomas, which are rare neuroendocrine tumors. These mutations may result in the accumulation of succinate, which can inhibit the enzyme's activity and lead to a pseudohypoxic state, contributing to tumorigenesis. SDHA-related tumors tend to be aggressive and have a high metastatic potential. They often require a multimodality treatment approach, including surgery, radiation therapy, and chemotherapy, and may respond poorly to traditional therapies. The diagnosis and monitoring of these tumors can be facilitated through biochemical markers and advanced imaging techniques such as PET/CT scans with specific radiotracers.
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