Introduction: The incidence of liver damage due to steroid consumption is increasing due to the omnipresence of the idealized body image and the widespread availability of drugs via the Internet. The genetic factors underlying individual susceptibility are not presently known.
Case Presentation: A male patient developed cholestatic liver injury two weeks after a two-month course of anabolic steroids. Next-generation sequencing (NGS) of 24 cholestasis-related genes revealed a heterozygous two-basepair deletion in exon 1 of the pregnane X receptor gene (PXR). Serum bile salt levels showed marked imbalances, strongly resembling the changes observed in patients with biliary obstruction.
Conclusions: This case of PXR haploinsufficiency reveals transcriptional regulatory functions activated in the liver under xenobiotic stress by steroids, which appear to require two functional copies of the nuclear receptor gene. Deranged bile salt levels outline the central role of PXR in bile acid synthesis, modification, and export.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075225 | PMC |
| http://dx.doi.org/10.5812/hepatmon.35953 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Pilomatrix-like high-grade endometrioid carcinoma of the ovary: report of two cases].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450014, China.
[Solid, endometrial-like and transitional growth patterns of ovarian high-grade serous carcinoma: a clinicopathological analysis of 25 cases].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou 215002, China.
To investigate the clinicopathological characteristics of solid, endometrial-like and transitional (SET) cell growth subtype in high-grade serous ovarian carcinoma (HGSC). Clinical data of 25 cases of HGSC-SET were collected from January 2020 to March 2024 at the Affiliated Suzhou Hospital of Nanjing Medical University, and their histological features were analyzed. Immunohistochemical stains were used to analyze the expression of ER, PR, PAX8, WT-1, p16, p53 and Ki-67.
View Article and Find Full Text PDF[NTRK gene fusion and molecular pathological characteristics of mismatch repair deficient colorectal cancer].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, People's Hospital of Zhengzhou University/People's Hospital of Henan University, Zhengzhou 450043, China.
To investigate the expression pattern of pan-TRK protein in colorectal cancers with NTRK gene fusion and mismatch repair deficient (dMMR) and to analyze its molecular pathological characteristics. A total of 117 dMMR colorectal cancers diagnosed in the Department of Pathology of Henan Provincial People's Hospital, Zhengzhou, China from 2020 to 2023 were collected. Immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and DNA/RNA-based next-generation sequencing (NGS) were used to detect pan-TRK protein expression and fusion partner genes in tumors, and to further explore the correlation between pan-TRK staining patterns and partner genes.
View Article and Find Full Text PDFDeciphering the phenotypic, inflammatory, and endocrine disrupting impacts of e-waste plastic-associated chemicals.
Environ Res
January 2025
Man-Technology-Environment Research Center (MTM), Örebro University, Örebro SE-701 82, Sweden.
As the volume of plastic waste from electrical and electronic equipment (WEEE) continues to rise, a significant portion is disposed of in the environment, with only a small fraction being recycled. Both disposal and recycling pose unknown health risks that require immediate attention. Existing knowledge of WEEE plastic toxicity is limited and mostly relies on epidemiological data and association studies, with few insights into the underlying toxicity mechanisms.
View Article and Find Full Text PDFStructures and mRNP remodeling mechanism of the TREX-2 complex.
Structure
January 2025
Department of Biochemistry, Vanderbilt University School of Medicine Basic Sciences, Nashville, TN 37232, USA; Center for Structural Biology, Vanderbilt University, Nashville, TN 37232, USA. Electronic address:
mRNAs are packaged with proteins into messenger ribonucleoprotein complexes (mRNPs) in the nucleus. mRNP assembly and export are of fundamental importance for all eukaryotic gene expression. Before export to the cytoplasm, mRNPs undergo dynamic remodeling governed by the DEAD-box helicase DDX39B (yeast Sub2).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!