SDHC

Last update 08 May 2025

Basic Info

Synonyms

CYB560, cybL, Integral membrane protein CII-3

+ [8]

Introduction

Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity).

100 Clinical Results associated with SDHC

100 Translational Medicine associated with SDHC

0 Patents (Medical) associated with SDHC

828

Literatures (Medical) associated with SDHC

01 Jun 2025·Synthetic and Systems Biotechnology

Coupling genome-wide continuous perturbation with biosensor screening reveals the potential targets in yeast isopentanol synthesis network

Article

Author: Zhang, Yanfei ; Shi, Jingjing ; Wang, Lixian ; Xiao, Qi ; Zhao, Guoping

The increasing consumption of fossil fuels is contributing to global resource depletion and environmental pollution. Branched-chain higher alcohols, such as isopentanol and isobutanol, have attracted significant attention as next-generation biofuels. Biofuel production through microbial fermentation offers a green, sustainable, and renewable alternative to chemical synthesis. While enhanced production of isopentanol has been achieved in a variety of chassis, the fermentation yield has not yet reached levels suitable for industrial-scale production. In this study, we employed a continuous perturbation tool to construct a genome-scale perturbation library, combined with an isopentanol biosensor to screen for high-yielding mutants. We identified five high-yielding mutants, each exhibiting an increased glucose conversion rate and isopentanol titer. The F2 strain, in particular, achieved an isopentanol titer of 1.57 ± 0.014 g/L and a yield of 14.04 ± 0.251 mg/g glucose (10% glucose), surpassing the highest values reported to date in engineered Saccharomyces cerevisiae. Systematic transcriptome analysis of the isopentanol synthesis, glycolysis, glycerol metabolism, and ethanol synthesis pathways revealed that MPC, OAC1, BAT2, GUT2, PDC6, and ALD4 are linked to efficient isopentanol production. Further analysis of differentially expressed genes (DEGs) identified 17 and 12 co-expressed DEGs (co-DEGs) in all mutants and the two second-round mutants, respectively. In addition, we validated the knockout or overexpression of key co-DEGs. Our results confirmed the critical roles of HOM3 and DIP5 in isopentanol production, along with genes associated with the aerobic respiratory chain (SDH3, CYT1, COX7, ROX1, and ATG41) and cofactor balance (BNA2 and NDE1). Additionally, functional analysis of the co-DEGs revealed that MAL33 is associated with the synthesis of branched-chain higher alcohols, expanding the intracellular metabolic network and offering new possibilities for green, cost-effective biofuel production.

18 Apr 2025·JCEM Case Reports

Functional Suppression of a Prolactinoma by a Dopamine-Secreting Paraganglioma

Article

Author: Mihm, Frederick ; Needleman, Leor ; Bharani, Krishna L ; Annes, Justin P ; Chang, Julia J ; Fox, Tamaryn

AbstractProlactin-secreting pituitary adenomas are typically treated with dopamine agonists to inhibit prolactin secretion and reduce tumor size. Dopamine-secreting paragangliomas are rare neuroendocrine tumors of sympathetic and parasympathetic paraganglia and often do not provoke symptoms of catecholamine excess. Although overlapping genetic drivers have been described for paragangliomas and pituitary adenomas, biochemical crosstalk between coexisting tumors is underexplored. We describe the case of a 52-year-old male individual who presented with cerebrospinal fluid (CSF) rhinorrhea and was found to have an invasive, 4.2-cm pituitary mass with modestly elevated prolactin (130.9 ng/mL [130.9 µg/L], reference range [RR] 2-18 ng/mL [2-18 µg/L]). Additional imaging discovered a mediastinal mass suspicious for a thoracic paraganglioma. Biochemical screening demonstrated marked elevation of plasma and urinary dopamine. Following paraganglioma resection, dopamine levels normalized, but prolactin rose significantly (877.8 ng/mL [877.8 µg/L]), suggesting an endogenous dopamine agonist–like effect from the paraganglioma to suppress pituitary prolactin hypersecretion. Pituitary pathology was notable for a PIT1 (pituitary transcription factor-1)-lineage pituitary adenoma with absent immunohistochemical staining for prolactin. Genetic testing found a previously unreported germline SDHC variant of uncertain significance. In this case, we report a novel biologic signaling mechanism between 2 rare primary endocrine tumors and highlight challenges in their diagnosis and management.

01 Apr 2025·Endocrine-Related Cancer

In vivo and in vitro analysis of functional effects of the SDHD H50R variant

Article

Author: Kirschner, Lawrence S ; LaPerle, Krista ; Zhang, Xiaoli ; Priya, Shivam ; Vesco, Xavier ; Ziegler, Edward ; Chakravarthy, Karthik

Germline mutations in the 4 genes (SDHA, SDHB, SDHC, and SDHD) encoding the Succinate Dehydrogenase (SDH) holoprotein are known to predispose towards the development of tumors including pheochromocytomas/paragangliomas (PPGLs), gastrointestinal stromal tumors (GISTs), clear cell renal cancers (RCC), and possibly others. Mutations in these genes have also been described in patients with Cowden Syndrome, which includes tumors of the breast, brain, and thyroid gland. Although nonsense mutations are clearly pathogenic, the functional consequences of many missense mutations are unclear. It has previously been reported that the missense mutations SDHDG12S and SDHDH50R predispose to thyroid and breast cancers, although this characterization has been disputed. To address this question, we developed mouse models to test tumorigenicity of these variants. The reference mouse genome codes for a serine at residue 12 in Sdhd, so this variant was not pursued further. To assess the role of SDHDH50R (H50R), we generated a knock-in mouse allele for this variant and studied its effects in vivo, as well as in vitro in mouse embryonic fibroblasts. Unlike null alleles for Sdhd, the H50R allele did not produce embryonic lethality when homozygous. There was no statistically significant difference in survival or tumor formation in homo- or heterozygous animals compared to littermate controls. In vitro studies similarly failed to detect significant differences in proliferation, colony formation, or metabolic function. Based on our analysis of this allele’s function both in vivo and in vitro, we conclude that the SDHDH50R allele is mostly likely a non-pathogenic polymorphism.

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