| Description |
In 19 children with isolated Long-Chain 3-Hydroxyacyl coenzyme A Dehydrogenase (LCHAD) deficiency, a point mutation G to C 1528 has been implicated. The LCHAD enzyme is located in the alpha subunit of the mitochondrial trifunctional protein. The G to C 1528 mutation causes a substitution of glutamine for a glutamic acid at position 474 of the maternal protein. In the mothers of these children, 79% experienced either acute fatty liver of pregnancy (AFLP) or hemolysis, elevated liver enzymes, and low platelet counts (HELLP). We investigated whether women suffering from severe preeclampsia (PE) or HELLP carry this point mutation and whether this mutation may be a predictor of these disorders. DNA was extracted from 70 mothers affected with HELLP syndrome, 51 of their infants, and 121 mothers affected with severe PE. The samples were screened for the G to C mutation at position 1528 of the LCHAD gene. The area surrounding position 1528 was amplified using the polymerase chain reaction presence of the mutation was identified after enzymatic digestion with Pst I followed by gel electrophoresis and visualization with ethidium bromide and UV light. None of the women or children tested carried the G to C 1528 mutation. A natural Pst I site served as a positive control for digestion. The G to C 1528 mutation in the LCHAD gene appears to have no association with the development of HELLP or severe PE in our population. Perhaps mothers of children with LCHAD deficiency develop HELLP or AFLP as a result of the fetal disease and not as a result of carrying an LCHAD mutation. |
