Sdhd Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
{{Infobox gene
| symbol = SDHD
| name = Succinate Dehydrogenase Complex Subunit D
| chromosome = 11
| locus = 11q23.1
| geneID = 6392
| omim | 602460
| ensembl = ENSG00000150201
| uniprot = O14521
| uniprot_name = SDHD
| diseases = Hereditary Paraganglioma, Pheochromocytoma, Cowden Syndrome
| diseases_ref = Baysal et al., 2000, Science
}}
Succinate dehydrogenase complex subunit D (SDHD) is a nuclear-encoded mitochondrial protein that is a core component of mitochondrial complex II (succinate dehydrogenase) and the TCA cycle. The SDHD gene is located on chromosome 11q23.1 and encodes a protein of 159 amino acids that anchors the other SDH subunits to the mitochondrial inner membrane. SDHD is part of complex II, which catalyzes succinate oxidation to fumarate in the TCA cycle and transfers electrons to the electron transport chain. SDHD is unique among mitochondrial DNA-encoded complex II subunits as it is nuclear-encoded and imported into mitochondria. Mutations in SDHD cause hereditary paraganglioma and pheochromocytoma, making it one of the most prominent tumor suppressor genes in neuroendocrine tumors.
Succinate dehydrogenase complex subunit D (SDHD) is a membrane-anchoring subunit of mitochondrial complex II (succinate dehydrogenase). SDHD is essential for the function of complex II, which participates in both the electron transport chain and the TCA cycle.
SDHD is part of the succinate dehydrogenase (SDH) complex:
SDH (Complex II) transfers electrons from succinate to ubiquinone:
SDHD is a tumor suppressor:
SDHD mutations cause hereditary paraganglioma syndrome:
SDHD mutations predispose to pheochromocytoma:
SDHD variants contribute to Cowden syndrome:
SDHD is expressed in:
The study of Sdhd Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Díaz-Castro B et al.. "Resistance of glia-like central and peripheral neural stem cells to genetically induced mitochondrial dysfunction--differential effects on neurogenesis." EMBO reports (2015) DOI:10.15252/embr.201540982
Ahn EH et al.. "Mitochondrial dysfunction triggers the pathogenesis of Parkinson's disease in neuronal C/EBPβ transgenic mice." Molecular psychiatry (2021) DOI:10.1038/s41380-021-01284-x
Sadeesh EM et al.. "Differential expression of nuclear-derived mitochondrial succinate dehydrogenase genes in metabolically active buffalo tissues." Molecular biology reports (2024) DOI:10.1007/s11033-024-10022-9
Yue X et al.. "Comparative study of the neurotrophic effects elicited by VEGF-B and GDNF in preclinical in vivo models of Parkinson's disease." Neuroscience (2014) DOI:10.1016/j.neuroscience.2013.11.038