Hydatidiform mole (HM) is an abnormal human pregnancy characterized by cystic degeneration of chorionic villi and absence of embryo. It has been correctly proposed that deregulation of imprinted genes, expressed in a parent-of-origin specific pattern, leads to this pathology due to the fact that biparental and androgenetic HMs are indistinguishable at the phenotypic level. To determine the extent of the abnormal DNA methylation in two biparental moles from a family with a mutation in NALP7, we assessed long interspersed nuclear elements (LINEs), inactive X-linked genes and three tumour suppressor genes and demonstrated their normal levels of methylation. Since the identification of the NALP7 as the causative gene of recurrent HMs, the role of inflammation and immunity has come into light as a possible cause of this disease. Due to the known role of NALP7 in cytokine processing, we addressed the ability of the patients' peripheral blood mononuclear cells (PBMCs) to secrete cytokines in response to stimulation with various antigenic molecules. We found a reduced level of IL-1beta and TNF-alpha secretion by the patients' PBMCs suggesting that abnormal processing of several cytokines may underlie this disease.

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