SDHA : succinate dehydrogenase complex flavoprotein subunit A

Description

The SDHA gene provides instructions for making a subunit of succinate dehydrogenase (SDH), a key enzyme involved in the mitochondrial respiratory chain. This chain is responsible for generating energy (ATP) through the breakdown of food. SDHA, as part of SDH, plays a vital role in converting succinate to fumarate, a crucial step in the citric acid cycle. Mutations in the SDHA gene can disrupt this process, leading to a variety of health problems. Understanding the role of SDHA is essential for diagnosing and treating these conditions, as well as for exploring potential therapeutic strategies.

Associated Diseases

• **Hereditary Paraganglioma-Pheochromocytoma Syndromes (PPGLs):** SDHA mutations are linked to a predisposition to developing these tumors in the adrenal glands and other tissues.
• **Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactic Acidosis (LBSL):** This rare disorder affects the brain, spinal cord, and other tissues, leading to severe neurological symptoms.
• **Glomus Tumors:** SDHA mutations have been associated with the development of glomus tumors, which are slow-growing tumors found in the skin and soft tissues.
• **Other Cancers:** Some studies suggest a potential link between SDHA mutations and certain types of cancer, including colorectal and renal cell carcinoma.

Did you know?

SDHA mutations can cause a wide range of clinical presentations, making diagnosis challenging. Individuals with SDHA mutations may present with different symptoms, depending on the specific mutation and the affected tissues.