Recombinant Human Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (SDHD), partial

1. In 25 Mexican patients with carotid body tumors, there were 4 with a heterozygous p81L SDHD (11q23) gene mutation. This is greater than the rate in the U.S. population and may explain the high incidence of this pathology in Mexico. PMID: 29681642
2. Mutations in one of the five genes encoding the succinate dehydrogenase or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas and paragangliomas--REVIEW PMID: 28924001
3. A targeted familial genetic test should be proposed from the age of 18 years to every subject having a mother carrying a germline SDHD mutation and a first medical workup, including imaging, should be recommended to SDHD-positive mutation carriers PMID: 27856506
4. Loss of SDHD gene is associated with paragangliomas. PMID: 28099933
5. promoter mutation seems to be a rare event in CM but SDHD lower expression might associate with worst prognostic features in CM PMID: 28662141
6. role for GABPA/B1 as the critical ETS transcription factors deregulating SDHD expression in the context of highly recurrent promoter mutations in melanoma. PMID: 28108517
7. Mortality rates and survival in a Dutch cohort of SDHD variant carriers does not differ from that of the general Dutch population. PMID: 25758995
8. Melanomas harbor recurrent SDHD promoter mutations, which occur primarily as C>T alterations in UV-exposed melanomas. PMID: 26327518
9. Loss of SDH activity leads to changes in the metabolism of non-essential amino acids. PMID: 26522426
10. Metabolic sensors via Sirt3 maximize the cellular reserve respiratory capacity through activating mitochondrial complex II, which enhances cell survival after hypoxia. PMID: 26225774
11. Data indicate that double pathogenic mutations in the succinate dehydrogenase complex subunit D (SDHD) gene is associated with the aggressive paraganglioma syndrome type 1 (PGL1) phenotype. PMID: 25819804
12. suggested that SDHD mutation may enhance the overexpression of miR-101 in malignant tumors and miR-101 may be a potential diagnostic biomarker for malignant pheochromocytoma and benign pheochromocytoma PMID: 25973039
13. Hereditary pheochromocytoma / paraganglioma associated with SDHD gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations. PMID: 26591561
14. Autosomal dominant susceptibility for Paraganglioma is modified by imprinting and mutations in the SDHD gene cause Paragangliomas only when the mutation is inherited from father. PMID: 24973967
15. SDHD deletions in a group of unrelated patients with developmental delay and partial monosomy at chromosome 11. PMID: 25735893
16. SDHD mutations are associated with protein and nuclear and mitochondrial genomic instability and increase reactive oxygen species production in an yeast model. PMID: 25328978
17. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency PMID: 26008905
18. This study is the first report of hereditary paraganglioma-pheochromocytoma syndromes with SDHD and RET mutations. PMID: 24375508
19. assessed the genotype-phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluatde potential differences in clinical phenotypes due to specific SDHD gene mutations PMID: 23586964
20. we simultaneously sequenced the genome of all subunits, SDHA, SDHB, SDHC, and SDHD in a larger series of KIT/PDGFRA wild-type GIST in order to evaluate the frequency of the mutations and explore their biological role PMID: 23612575
21. Results show that transmission of SDHD mutations via the maternal line can, in rare cases, result in tumorigenesis. PMID: 25300370
22. Loss of heterozygosity was found in more than 50 % of the von Hippel-Lindau-associated pheochromocytomas, and was correlated with a significant decrease (p < 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role. PMID: 24322175
23. Asymptomatic carriers of an SDHD mutation are at a high risk for occult parasympathetic paraganglioma. PMID: 22948026
24. The high prevalence of the G12S polymorphism of the SDHD gene in patients with multiple endocrine neoplasia type 2A raises questions about its role as a genetic modifier, but this proposal remains to be established. PMID: 22584711
25. In paraganglioma, 10 different SDHD mutations were detected. PMID: 22566194
26. No mutations were found in SDHD gene in cases of pheochromocytoma and abdominal paraganglioma in Western Sweden. PMID: 22270996
27. Description of the first kindred with a germline SDHD pathogenic mutation, inherited paragangliomas, and acromegaly due to a GH-producing pituitary adenoma. PMID: 22170724
28. two mis-sense mutations at the start codon of the SDHD gene, including p.Met1Val (c.1A>G) and p.Met1Ile (c.3G>C), might be mutation hotspots in Chinese patients with familial Head and neck paragangliomas PMID: 21945342
29. Combination of demographic/geographical/historical conditions in Trentino, Italy, resulted in oldest/largest SDHD founder effect so far characterized and has transformed a rare disease (paraganglioma syndrome type 1) into an endemic disease. PMID: 22456618
30. The results provide molecular evidence for imprinting at a boundary element flanking the SDHD locus and suggest that epigenetic suppression of the maternal allele is the underlying mechanism of the imprinted penetrance of SDHD mutations. PMID: 21862453
31. The large majority of the patients carried mutations in SDHD (83%), and the p.Asp92Tyr Dutch founder mutation in SDHD alone accounted for 72% of all patients with HNPGL. PMID: 21561462
32. pheochromocytoma formation can occur after maternal transmission of SDHD;tumor formation in SDHD mutation requires loss of wild-type SDHD allele and maternal 11p15 leading to predominant but not exclusive inheritance pattern after paternal SDHD transm PMID: 21937622
33. mutation related to familial paraganglioma: the deletion was c.165_169 + 14del PMID: 21619495
34. study found there is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation PMID: 21792967
35. analysis of SDHD mutations in pheochromocytomas and paragangliomas patients PMID: 20505258
36. These data describe a large SDHD deletion at the genomic sequence level and indicate that gross SDHD deletions could be a founder paraganglioma mutation in certain populations. PMID: 20111059
37. Both the risk of paraganglioma and phaeochromocytoma formation, and the risk of developing associated symptoms were investigated in 243 family members with the SDHD.D92Y founder mutation. PMID: 19584903
38. R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway PMID: 11605159
39. Alterations of the SDHD gene are involved in the tumorigenesis of both midgut carcinoids and Merkel cell carcinomas. PMID: 12007193
40. identification of novel mutations in patients with phaeochromocytoma and/or paraganglioma PMID: 12111639
41. Germ-line mutation in SDHD is associated with parasympathetic paraganglioma PMID: 12114404
42. Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect. PMID: 12782822
43. SDHD may have a role in colorectal and gastric cancers as a distinct type of tumor suppressor PMID: 12883710
44. Loss of chromosome 11 regions, including the deletion of PGL1 and PGL2 loci, may result in a severe phenotype, as exemplified by the development of paraganglioma. PMID: 15066320
45. germline mutation in the succinate dehydrogenase subunit D (SDHD) gene PMID: 15365827
46. Germline mutation on the SDHD gene was present in patients with pheochromocytoma or functional paraganglioma. PMID: 16314641
47. Pseudo-hypoxia can be observed in SDH-suppressed cells in the absence of oxidative stress and in the presence of effective antioxidant treatment. PMID: 16797480
48. prevalence of paragangliomas in carriers of D92Y mutations is at least 2.5%. PMID: 17227803
49. The genes most frequently implicated: SDHD and SDHB, also predispose to phaeochromocytoma. SDHD shows a complex inheritance pattern - tumours do not develop if the mutation is inherited from the mother. PMID: 17298303
50. mutation not found in Chinese patients with sporadic pheochromocytoma/paraganglioma PMID: 17526943

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HGNC: 10683

OMIM: 114900

KEGG: hsa:6392

STRING: 9606.ENSP00000364699

UniGene: Hs.356270