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A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis
Published on: August 11, 2010
ERV-3 envelope expression and congenital heart block: what does a physiological knockout teach us
N de Parseval1, G Forrest, P J Venables
1Unité Rétrovirus Endogènes et Eléments Rétroïdes des Eucaryotes Supérieurs, CNRS UMR 1573, Institut Gustave Roussy, Villejuif, France.
Autoimmunity
|August 6, 1999
Summary
Mothers of infants with congenital heart block (CHB) were studied for a specific genetic variation in endogenous retrovirus-3 (ERV-3). This common ERV-3 stop polymorphism was not found to be a significant factor in CHB development.
Area of Science:
- Immunology
- Genetics
- Maternal-fetal medicine
Background:
- Congenital heart block (CHB) is a severe condition often caused by maternal autoantibodies crossing the placenta.
- Autoantibodies to SSA/Ro and SSB/La have been implicated, with recent focus on antibodies to endogenous retrovirus-3 (ERV-3) envelope proteins.
Purpose of the Study:
- To investigate the role of a naturally occurring ERV-3 genetic polymorphism in the pathogenesis of CHB.
- To determine if a specific ERV-3 stop mutation in mothers is associated with CHB in their infants.
Main Methods:
- Genotyping for the ERV-3 premature stop mutation in 12 mothers of infants diagnosed with CHB.
- Analysis of the ERV-3 stop polymorphism's prevalence in the Caucasian population.
Main Results:
- A premature stop mutation leading to a truncated ERV-3 protein occurs in 1% of the Caucasian population.
- None of the 12 mothers of CHB infants were homozygous for this specific ERV-3 stop mutation.
Conclusions:
- The studied ERV-3 stop polymorphism in mothers does not appear to be a primary cause of CHB.
- Other genetic variations or factors may contribute to the development of CHB, warranting further investigation.
