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hepatocyte nuclear factor 1b mutation in a Chinese family with renal cysts and diabetes syndrome:A case report

World Journal of Clinical Cases 2021年第28期9卷 8461-8469页

作者： Tang-Li Xiao Jun Zhang Li Liu bo Zhang Department of Nephrology The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of ChongqingChongqing Clinical Research Center of Kidney and Urology DiseasesXinqiao HospitalArmy Medical University(Third Military Medical University)Chongqing 400037China

bACKGROUND Renal cysts and diabetes(RCAD)syndrome is an autosomal dominant diabetic renal *** molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and personalized *** SUMMARY A RCAD patient and her family were studied to investigate potential responsible genes by the whole exome sequencing(WES).Candidate pathogenic variants were validated by Sanger *** clinical characteristics of RCAD patient were collected from medical *** those typical RCAD patients,we observed renal manifestation and prediabetes phenotype,but not reproductive organ phenotype and hypomagnesaemia.A novel 7-bp deletion mutation in exon 4 of the hepatocyte nuclear factor 1b,NM_000458:c.882_888del(p.V294fs),was identified by WES and confirmed by Sanger *** This novel mutation identified in a Chinese family with RCAD syndrome might be the molecular pathogenic basis of this disorder.

关键词： Renal cysts and diabetes hepatocyte nuclear factor 1b Exome sequencing Novel mutation Autosomal dominant disorder Case report

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Oleanolic acid attenuates PCbs-induced insulin resistance via regulation of fatty liver and adiposity

Oleanolic acid attenuates PCBs-induced insulin resistance vi...

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中国毒理学会第七次全国会员代表大会暨中国毒理学会第六次中青年学者科技论坛

作者： Shuhao Su Chunxu Hai Xin Wang Department of Toxicology Shaanxi Key Lab of Free Radical Biology and Medicine School of Public Health Fourth Military Medical University

Polychlorinated biphenyls (PCbs) exposure is closely associated with obesity and diabetes. However, the mechanism of PCbs-induced adiposity and insulin resistance is not clear and the intervention is limited. We have found that oleanolic acid (OA) is a natural triterpenoid,possessing antioxidant and anti-diabetic activity, and hepatocyte nuclear factor 1b (HNF1b) is an important regulator of glucose and lipid metabolism. The present study aimed to investigate the effect of OA on Aroclor 1254-induced adiposity and insulin resistance and explore the possible involvement of HNF1b. We showed that OA significantly attenuated Aroclor 1254-induced insulin resistance and abnormal changes of glucose and lipid parameters. OA inhibited the increase of adipose weight and adipocyte size in Aroclor 1254-treated mice and repressed adipocyte differentiation in vitro. In addition, OA markedly inhibited Aroclor 1254-induced increase of ROS,oxidant products, NOX4 expression, decrease of SOD1, SOD2, GCLC, GCLM and Gpx1expression, and increase of PPARγsignaling. Aroclor 1254 resulted in a decrease of HNF1b expression in adipose of mice and adipocytes, which was inhibited by OA. Upregulation of HNF1b blocked Aroclor 1254-induced oxidative stress, adipocyte differentiation and insulin resistance. Downregulation of HNF1b inhibited OA-induced protective effects against Aroclor1254-associated oxidative stress, adipocyte differentiation and insulin resistance. The antioxidant Vitamin C reduced Aroclor 1254-induced ROS generation in vitro, but had no significant effect on HNF1b expression, oxidative stress and metabolic dysfunction in vivo. OA could inhibit PCbs mixture-induced oxidative injury and glucose/lipid metabolic dysfunction via HNF1b-mediated regulation of redox homeostasis. Our data suggest that HNF1b is a new on/off switch of redox homeostasis and OA-stimulated HNF1b-endogenous antioxidant activity is a potential option for the intervention of PCbs exposure-related adiposity and in

关键词： Polychlorinated biphenyls Oleanolic acid hepatocyte nuclear factor 1b oxidative stress Metabolic dysfunction Vitamin C

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