ERV-3 envelope expression and congenital heart block: what does a physiological knockout teach us.

Abstract:

:Congenital heart block is a serious condition with significant mortality due in most cases to the transplacental transfer of autoantibodies from an otherwise asymptomatic mother. Although SSA/Ro and SSB/La autoantibodies have been implicated, attention has focused recently on autoantibodies to envelope proteins of endogenous retrovirus-3 (ERV-3). We have recently identified in 1% of the caucasian population a natural knock out of ERV-3 due to a premature stop mutation generating a severely truncated form of the protein [corrected]. If a pregnant female homozygous for the truncated form of the ERV-3 carries a foetus expressing the entire protein, the mother might be expected to acquire high titre immunity, while the foetus homozygous for the truncated form would not be expected to immunise its mother. In order to test whether this naturally occurring model could shed light on the pathogenesis of CHB, we determined the status of the ERV-3 stop polymorphism in 12 mothers of CHB infants [corrected]. The fact that none was homozygous for the stop mutation tends to rule out a role for the stop polymorphism of the mothers in the generation of the CHB disease, but does not exclude that other polymorphisms might be involved [corrected].

journal_name

Autoimmunity

journal_title

Autoimmunity

authors

de Parseval N,Forrest G,Venables PJ,Heidmann T

doi

10.3109/08916939908994764

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

81-3

issue

2

eissn

0891-6934

issn

1607-842X

journal_volume

30

pub_type

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