Document Detail

An increased incidence of apolipoprotein E2/E2 and E4/E4 in retinitis pigmentosa.
MedLine Citation:
PMID:  8277830     Owner:  NLM     Status:  MEDLINE    
Previous studies from our laboratory have shown that retinitis pigmentosa (RP), a family of hereditary retinal degenerations, is often accompanied by abnormal levels of cholesterol or polyunsaturated fatty acids. The requirement of the retina for n-3 fatty acids is well known, and a defect in the supply of these lipids (e.g., by apolipoproteins) could affect the course of the disease. The present study confirms and extends a report on apolipoprotein E (apo E) isoforms in German RP patients [Jahn, Oette, Esser, Bergmann, and Leiss, (1987) Ophthalmic Res. 19, 285-288] which showed a tenfold increased frequency of the E2/E2 phenotype compared to the average German population. In our study, apo E phenotypes were determined in the probands of 100 Scottish RP families. The findings revealed a 4-fold increase in the incidence of E2/E2 and an 8-fold increase in E4/E4 compared to a Scottish control population. These increases were statistically significant at the P < 0.05 and P < 0.01 levels, respectively. To investigate the possibility that some of these apparent E2/E2 or E4/E4 phenotypes might actually be new apo E mutations, we examined the behavior of the apo E on sodium dodecyl sulfate-polyacrylamide gels (E2 migrates anomalously) and on isoelectric focusing gels following cysteamine modification of cysteines. These studies showed that two RP patients possibly had new apo E mutations, though amino-terminal sequence analysis revealed no changes in the sequence of the first 19 residues; further sequence analysis is obviously warranted.
L Huq; T McLachlan; H M Hammer; D Bedford; C J Packard; J Shepherd; C A Converse
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Lipids     Volume:  28     ISSN:  0024-4201     ISO Abbreviation:  Lipids     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-09     Completed Date:  1994-02-09     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0060450     Medline TA:  Lipids     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  995-8     Citation Subset:  IM    
Department of Pharmaceutical Sciences, University of Strathclyde, Glasgow, United Kingdom.
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MeSH Terms
Apolipoproteins E / analysis*
Genetic Variation*
Retinitis Pigmentosa / blood*,  epidemiology,  etiology
Scotland / epidemiology
Sequence Analysis
Reg. No./Substance:
0/Apolipoproteins E

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