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Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring
I B Van den Veyver1, T K Al-Hussaini
1Department of Obstetrics and Gynecology, Baylor College of Medicine, 1709 Dryden, Suite 1100, Houston, TX 77030, USA. iveyver@bcm.tmc.edu
Human Reproduction Update
|March 17, 2006
Summary
Biparental hydatidiform moles (BiHM) result from autosomal recessive mutations affecting imprinting. Research suggests these mutations disrupt maternal imprinting mark establishment or maintenance, impacting gene expression.
Area of Science:
- Reproductive genetics
- Developmental biology
- Epigenetics
Background:
- Highly recurrent hydatidiform moles (HMs) often exhibit biparental genomic contribution (BiHM), unlike typical androgenetic HMs.
- Affected women carry an autosomal recessive mutation predisposing their pregnancies to HM development.
- A major genetic locus for BiHM is mapped to chromosome 19q13.42, but the causative gene remains unidentified.
Purpose of the Study:
- To investigate the genetic basis of biparental hydatidiform moles (BiHM).
- To explore the molecular mechanisms underlying imprinting deregulation in BiHM trophoblast.
- To identify potential candidate genes involved in imprinting establishment and maintenance.
Main Methods:
- Molecular studies analyzing imprinting marks in BiHM trophoblast.
- Genetic mapping to identify the chromosomal locus associated with BiHM.
- Hypothesis-driven investigation of genes encoding transacting factors for imprinting.
Main Results:
- BiHM involves deregulated maternal imprinting marks in the trophoblast.
- Mutations are hypothesized to affect genes crucial for imprinting establishment or maintenance.
- Potential impact on other chromatin remodeling processes and imprinted gene expression.
Conclusions:
- BiHM is caused by autosomal recessive mutations affecting maternal imprinting.
- Further research is needed to identify the specific mutated genes.
- Genetic counseling is recommended for affected women due to risks of invasive trophoblastic disease.
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