SDHC : succinate dehydrogenase complex subunit C
Understanding the SDHC Gene: A Critical Regulator of Cellular Energy and Growth
Description:
The SDHC gene is responsible for producing one of four subunits of the succinate dehydrogenase (SDH) enzyme, a protein complex vital for cellular respiration. SDH is embedded in the mitochondrial membrane, where it facilitates the conversion of succinate to fumarate in the citric acid cycle. This reaction generates electrons that are transferred to the oxidative phosphorylation pathway, leading to the production of adenosine triphosphate (ATP), the cell‘s energy currency.
Associated Diseases:
Mutations in the SDHC gene can lead to various diseases, including:
- Mitochondrial Paragangliomas and Pheochromocytomas: Tumors that arise from cells in the adrenal glands and sympathetic nervous system.
- Gastrointestinal Stromal Tumors (GISTs): Tumors that originate in the connective tissue of the digestive tract.
- Kidney Cancer: Certain types of kidney tumors, particularly those associated with mutations in genes related to cellular respiration.
- Neuroendocrine Tumors: Tumors that develop in hormone-producing cells throughout the body.
- Pituitary Adenomas: Tumors of the pituitary gland, located at the base of the brain.
Did you Know ?
Mutations in the SDHC gene are found in approximately 1-5% of patients with paragangliomas and pheochromocytomas.
