Cholate-CoA ligase (CCL) and bile acid-CoA: amino acid N-acyltransferase (BAAT) sequentially mediate bile-acid amidation. Defects can cause intrahepatic cholestasis. Distinction has required gene sequencing. We assessed potential clinical utility of immunostaining of liver for CCL and BAAT. Using commercially available antibodies against BAAT and CCL, we immunostained liver from an infant with jaundice, deficiency of amidated bile acids, and transcription-terminating mutation in BAAT. CCL was normally expressed. BAAT expression was not detected. Immunostaining may facilitate diagnosis in bile-acid amidation defects.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3391772 | PMC |
| http://dx.doi.org/10.3748/wjg.v18.i25.3322 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Bile acid synthesis impedes tumor-specific T cell responses during liver cancer.
Science
January 2025
NOMIS Center for Immunobiology and Microbial Pathogenesis, Salk Institute for Biological Studies, La Jolla, CA, USA.
The metabolic landscape of cancer greatly influences antitumor immunity, yet it remains unclear how organ-specific metabolites in the tumor microenvironment influence immunosurveillance. We found that accumulation of primary conjugated and secondary bile acids (BAs) are metabolic features of human hepatocellular carcinoma and experimental liver cancer models. Inhibiting conjugated BA synthesis in hepatocytes through deletion of the BA-conjugating enzyme bile acid-CoA:amino acid -acyltransferase (BAAT) enhanced tumor-specific T cell responses, reduced tumor growth, and sensitized tumors to anti-programmed cell death protein 1 (anti-PD-1) immunotherapy.
View Article and Find Full Text PDFIdentification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.
Medicine (Baltimore)
September 2024
Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
Article Synopsis
- Skeletal dysplasias are a group of rare genetic disorders that disrupt the normal development of bones and cartilage, with over 770 documented cases.
- A 13-month-old girl presented with jaundice and failure to thrive, leading to blood tests that showed abnormal levels of bilirubin and calcium, alongside irregular bone development.
- Whole exome sequencing identified a specific mutation in the BAAT gene as the cause of her skeletal dysplasia, contributing important genetic insights for future clinical applications.
Identification of "missing links" in C- and D-ring cleavage of steroids by TA441.
Appl Environ Microbiol
October 2023
Environmental Molecular Biology Laboratory, RIKEN, Saitama, Japan.
TA441 is capable of aerobically degrading steroids through the aromatization and cleavage of the A- and B-rings, followed by D- and C-ring cleavage via β-oxidation. While most of the degradation steps have been previously characterized, a few intermediate compounds remained unidentified. In this study, we proposed that the cleavage of the D-ring at C13-17 required the ScdY hydratase, followed by C-ring cleavage via the ScdL1L2 transferase.
View Article and Find Full Text PDFIdentification of bile acid-CoA:amino acid N-acyltransferase as the hepatic N-acyl taurine synthase for polyunsaturated fatty acids.
J Lipid Res
September 2023
Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark. Electronic address:
N-acyl taurines (NATs) are bioactive lipids with emerging roles in glucose homeostasis and lipid metabolism. The acyl chains of hepatic and biliary NATs are enriched in polyunsaturated fatty acids (PUFAs). Dietary supplementation with a class of PUFAs, the omega-3 fatty acids, increases their cognate NATs in mice and humans.
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!