Document Detail

Molecular analysis of extracellular-superoxide dismutase gene associated with high level in serum.
MedLine Citation:
PMID:  7662997     Owner:  NLM     Status:  MEDLINE    
Extracellular-superoxide dismutase (EC-SOD) is one of the SOD isozymes mainly distributed in the extracellular fluid. In the vascular system, it is located on the endothelial cell surface according to studies on the heparin binding capacity. By measurement of serum EC-SOD levels of Japanese in healthy persons (n = 103) and hemodialysis patients (n = 150), 7 healthy subjects and 24 hemodialysis patients were classified into group II associated with high EC-SOD levels. By molecular analysis of the EC-SOD coding region from the group II individuals in Sweden, a single nucleotide substitution of G to C generating an amino acid change of arginine to glycine has been identified in the region associated with the heparin affinity of the enzyme. The same mutation was detected in the Japanese as a homozygote in both alleles of 2 hemodialysis patients and as a heterozygote in one allele of all the healthy group II individuals and 17 hemodialysis patients. The amino acid substitution may result in the decrease of the heparin affinity which is favorable for the existence of EC-SOD in the serum.
H Yamada; Y Yamada; T Adachi; H Goto; N Ogasawara; A Futenma; M Kitano; K Hirano; K Kato
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Japanese journal of human genetics     Volume:  40     ISSN:  0916-8478     ISO Abbreviation:  Jpn. J. Hum. Genet.     Publication Date:  1995 Jun 
Date Detail:
Created Date:  1995-10-10     Completed Date:  1995-10-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9213239     Medline TA:  Jpn J Hum Genet     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  177-84     Citation Subset:  IM    
First Department of Internal Medicine, Aichi Medical University, Japan.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Extracellular Space / enzymology*
Kidney Failure, Chronic / genetics,  therapy
Molecular Sequence Data
Point Mutation
Renal Dialysis
Superoxide Dismutase / blood,  genetics*
Reg. No./Substance:
EC Dismutase

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

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