After filtering against existing SNP databases and picking out variants on exonic and splicing, 44 variants were reserved. The largest overlapping autozygous regions were at chromosome 16. We focused on two non-synonymous variants from HSD3B7 gene. Follow-up Sanger sequencing

identified selleck chemicals HSD3B7 mutations in the proband and his families. Conclusion: We make a genetic diagnosis of HSD3B7 deficiency using exome sequencing and homozygosity mapping. HSD3B7 deficiency is an automatic recessive disease and early diagnosis and primary bile acid treatment lead to progressive normalization of liver function and avoidance of liver transplantation. Key Word(s): 1. Exome sequencing; 2. Cholestasis; 3. HSD3B7 deficiency; Presenting Author: QINGHUA HU Additional Authors: ZHONGWEI LIU, HAITAO ZHU, KUNLUN CHEN, CHUAN QIU, KAIFA TANG Corresponding Author: QINGHUA HU Affiliations: Department of Medicine, 323 Hospital of PLA; School of Medicine, Xi’an Jiaotong University; School

of Public Health & Tropical Medicine, Tulane University; Affiliated Hospital of Guiyang Medical College Objective: Excessive endoplasmic reticulum (ER) stress plays an important role in inducing hepatocytes apoptosis in alcoholic liver disease (ALD). Curcumin has been proved to have a broad spectrum of biological activities including anti-inflammation, anti- neoplasm, antioxidation and anti- apoptosis. Previous studies have demonstrated the protective effect of curcumin medchemexpress against ethanol- induced hepatocyte apoptosis, but the mechanism is not completely clarified. In this study, we investigated whether curcumin’s hepatoprotecive effect acts via attenuating Stem Cell Compound Library order ER stress. Methods: Liver slice culture was used in this study. Isolated hepatocyte cultures were incubated whether by ethanol or curcumin or both of them. Ethanol cytotoxicity was evaluated by trypan blue exclusion test and released lactate dehydrogenase (LDH) activity. Hepatocyte apoptosis was assessed by flow cytometry. Real- time PCR and western blotting were utilized to qualify the expression

levels of GRP78 which is the hall marker of ER stress and Casepase 12 which reflexes ER stress- induced apoptosis specifically at transcriptional and translational levels. Results: Ethanol’s cytotoxicity to hepatocytes was evidenced by trypan blue exclusion test and released LDH activity. The apoptosis rate increases significantly after ethanol incubation but attenuated by co- administration of curcumin. Expectedly, expressions of GRP78 and cleaved Caspase12 increased significantly after ethanol incubation, indicating that ethanol evoked ER stress. However, after co- administration of curcumin, expression levels of GRP78 and cleaved Caspase12 were impaired dramatically. Conclusion: These results indicated that curcumin exerts its hepatoprotective effects by attenuating ER stress- induced apoptosis in hypatocytes incubated by ethanol. Key Word(s): 1. Curcumin; 2. Apoptosis; 3. Ethanol; 4.