STOX1 Gene Mutations Tied To Preeclampsia

NEW YORK (Reuters Health) - A study of women in the Netherlands indicates that mutations of the STOX1 gene may be associated with susceptibility to preeclampsia, researchers report in the April 3rd online edition of Nature Genetics.

In fact, senior investigator Dr. Cees B. M. Oudejans told Reuters Health that “our finding permits the establishment of clinical methods for presymptomatic diagnosis and the design of pharmacological methods for therapy.”

Dr. Oudejans of VU University Center in Amsterdam and colleagues came to this conclusion after an investigation involving 67 cases of preeclampsia in families with two more affected sisters.

The researchers sequenced 17 genes in the 10q22 region. One gene, STOX1, contained five different missense mutations that were identical between affected sisters and were inherited from the mother.

“Intriguingly, only the maternal copy of this gene is expressed in the placenta during the critical stage in which it invades the lining of the uterus, explaining why the process is so sensitive to loss of this gene’s function,” according to a press statement.

Moreover, Dr. Oudejans noted that the findings “will also be of importance for populations other than the Dutch. We predict that similar genes on chromosomes 2 and 4 that are subject to related epigenetic mechanisms cause preeclampsia in Icelandic and Australian females.”

Source: Nat Genet 2005. [ Google search on this article ]

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