J Inherit Metab Dis. 1991;14(4):563-79.

Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome.

Robertson KJ, Clarke D, Sutherland L, Wooster R, Coughtrie MW, Burchell B.

Source

Department of Biochemical Medicine, Ninewells Hospital and Medical School, University of Dundee, UK.

Abstract

Liver biopsy samples were obtained from eight Crigler-Najjar patients. Bilirubin UDPGT activity, assayed by a microassay with HPLC analysis, was not detectable in type I livers, and low levels (9-26% of controls) of monoglucuronide conjugates only were observed in type II livers. 1-Naphthol UDPGT activity was normal in most patients, where membrane integrity was maintained by correct sample procurement and preparation. Our data on type II livers suggest that a defect in UDPGA transport is an unlikely cause of the hyperbilirubinaemia, but reduced affinity for UDPGA was observed in one sample. Analysis of four patient liver samples by immunoblot analysis revealed the heterogeneous nature of this inherited disease within the patient population, and one sample where 1-naphthol UDPGT activity was considerably reduced appeared to correlate with the non-detection of a phenol UDPGT protein. Progress towards a molecular genetic diagnosis of Crigler-Najjar syndromes is discussed.

PMID:: 1749222; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Glucuronosyltransferase

Grant Support

Wellcome Trust/United Kingdom

LinkOut - more resources

Full Text Sources

EBSCO

Medical

Supplemental Content

Save items

Related citations in PubMed

Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I. [Hepatology. 1992]
Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I.
Bosma PJ, Chowdhury NR, Goldhoorn BG, Hofker MH, Oude Elferink RP, Jansen PL, Chowdhury JR. Hepatology. 1992 May; 15(5):941-7.
Review [Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I]. [Nihon Rinsho. 1993]
Review [Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I].
Sato H, Aono S, Koiwai O. Nihon Rinsho. 1993 Feb; 51(2):501-6.
Retrovirus-mediated expression of HUG Br1 in Crigler-Najjar syndrome type I human fibroblasts and correction of the genetic defect in Gunn rat hepatocytes. [Gene Ther. 1995]
Retrovirus-mediated expression of HUG Br1 in Crigler-Najjar syndrome type I human fibroblasts and correction of the genetic defect in Gunn rat hepatocytes.
Askari F, Hitomi E, Thiney M, Wilson JM. Gene Ther. 1995 May; 2(3):203-8.
Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes. [Blood Cells Mol Dis. 2006]
Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes.
Costa E, Vieira E, Martins M, Saraiva J, Cancela E, Costa M, Bauerle R, Freitas T, Carvalho JR, Santos-Silva E, et al. Blood Cells Mol Dis. 2006 Jan-Feb; 36(1):91-7. Epub 2005 Nov 2.
Review Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. [Haematologica. 1999]
Review Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
Sampietro M, Iolascon A. Haematologica. 1999 Feb; 84(2):150-7.

See reviews... See all...

Cited by 5 PubMed Central articles

Review Regulatable fatty acid transport mechanisms are central to the pathophysiology of obesity, fatty liver, and metabolic syndrome. [Hepatology. 2008]
Review Regulatable fatty acid transport mechanisms are central to the pathophysiology of obesity, fatty liver, and metabolic syndrome.
Berk PD. Hepatology. 2008 Nov; 48(5):1362-76.
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. [Am J Hum Genet. 1993]
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.
Moghrabi N, Clarke DJ, Burchell B, Boxer M. Am J Hum Genet. 1993 Sep; 53(3):722-9.
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. [J Clin Invest. 1994]
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
Seppen J, Bosma PJ, Goldhoorn BG, Bakker CT, Chowdhury JR, Chowdhury NR, Jansen PL, Oude Elferink RP. J Clin Invest. 1994 Dec; 94(6):2385-91.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Investigation of the molecular basis of the genetic deficiency of UDP-glucuronos...
Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome.
J Inherit Metab Dis. 1991 ;14(4):563-79.

PubMed
Inborn errors of bile acid metabolism.
Inborn errors of bile acid metabolism.
J Inherit Metab Dis. 1991 ;14(4):478-96.

PubMed
Optimizing the interventional cardiology facility: services integration in routi...
Optimizing the interventional cardiology facility: services integration in routine workflow.
Methods Inf Med. 2007 ;46(3):344-51.

PubMed
Paan and Gutka Use in the United States: A Pilot Study in Bangladeshi and Indian...
Paan and Gutka Use in the United States: A Pilot Study in Bangladeshi and Indian-Gujarati Immigrants in New York City.
J Immigr Refug Stud. 2006;4(1):99-110.

PubMed
Hypochlorous Acid as a Potential Wound Care Agent: Part II. Stabilized Hypochlor...
Hypochlorous Acid as a Potential Wound Care Agent: Part II. Stabilized Hypochlorous Acid: Its Role in Decreasing Tissue Bacterial Bioburden and Overcoming the Inhibition of Infection on Wound Healing.
J Burns Wounds. 2007 Apr 11 ;6:e6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: