Document Detail

Inherited metabolic liver disease.
MedLine Citation:
PMID:  16550035     Owner:  NLM     Status:  MEDLINE    
PURPOSE OF REVIEW: The past decade has seen understanding of the molecular machinery involved in the pathogenesis of genetic hemochromatosis, Wilson's disease, and alpha1-antitrypsin deficiency grow significantly. This year has seen further progress in elaborating the molecular biology, genetics, epidemiology, and management of these inherited metabolic diseases. RECENT FINDINGS: Both Wilson's disease and genetic hemochromatosis involve defects in the transport of heavy metals and their accumulation in hepatocytes. In alpha1-antitrypsin deficiency, intrahepatocyte accumulation of defective alpha(1)-antitrypsin occurs. As a more complete picture of the molecular biology of proteins and genes involved in transport has evolved, so has our understanding of their interactions. The molecular genetics of these diseases explains the different phenotypes seen. Finally, the elucidation of the molecular pathophysiology of these diseases has led to new ideas in their clinical management. SUMMARY: The recent developments detailed in this article have important implications for the future. Recent research has elegantly shifted the paradigm in our understanding to one focused on defects in the genetic machinery of the cell and on how better comprehension of these defects can lead to potential new therapies.
Michael L Schilsky; Scott Fink
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in gastroenterology     Volume:  22     ISSN:  0267-1379     ISO Abbreviation:  Curr. Opin. Gastroenterol.     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-03-21     Completed Date:  2006-09-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8506887     Medline TA:  Curr Opin Gastroenterol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  215-22     Citation Subset:  IM    
Center for Liver Disease and Transplantation, Division of Gastroenterology and Hepatology, New York Weill Cornell Medical Center, New York, USA.
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MeSH Terms
Adenosine Triphosphatases / genetics
Antimicrobial Cationic Peptides / metabolism
Cation Transport Proteins / genetics
Copper / metabolism
Hepatolenticular Degeneration / genetics*,  metabolism
Histocompatibility Antigens Class I / genetics
Iron Overload / genetics*,  therapy
Liver / physiopathology
Membrane Proteins / genetics
alpha 1-Antitrypsin Deficiency / genetics*,  physiopathology
Reg. No./Substance:
0/Antimicrobial Cationic Peptides; 0/Cation Transport Proteins; 0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins; 0/hepcidin; 7440-50-8/Copper; EC 3.6.1.-/Adenosine Triphosphatases; EC disease protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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