Genetic mutations may play role in repeated miscarriage
Tragic miscarriages for a couple have led to a discovery with potentially broad implications for future disease treatments, according to a team of researchers at the University of North Carolina School of Medicine. They identified a previously undiscovered gene mutation underlying hydrops fetalis – a fatal condition to fetuses due to fluid buildup in the space between organs. The proteins at the center of this finding have already been implicated in a number of diseases, opening avenues of potential drug discovery related to migraines, diabetes, osteoporosis, and other conditions.
Published in the Journal of Experimental Medicine, the study showed that this particular gene mutation impairs the ability of a cell receptor called CLR to interact properly with a helper protein called RAMP.
Receptors are special cell surface proteins that take in and transmit chemical signals important for cellular function. And RAMPs are garnering interest from basic scientists and pharmaceutical researchers because they seem to be essential for maintaining the proper folded shape of many important receptors at the cell surface. These findings illuminate key details of how RAMPs work and emphasize their clinical relevance by showing how their disruption can have fatal consequences.
“This study along with other research in this area point to the development of therapies that restore or otherwise alter the interactions of RAMPs with their partner receptors to treat a potentially wide range of diseases,” said study senior author Kathleen Caron, PhD, chair of the department of cell biology and physiology at the UNC School of Medicine.
The research was done in collaboration with Fuad Al Mutairi, MD, a clinical geneticist who was asked to consult on the case of a woman who experienced repeated pregnancy losses due to hydrops fetalis. Initial genetic testing failed to reveal any of the known mutations previously associated with hydrops fetalis. However, by using whole genome sequencing the team of researchers discovered that the unborn children had inherited two copies of a mutant form of the gene for CLR. The precise mutation, never described before, was the same in both copies of the gene, indicating that they had probably arisen from the same ancestor. In fact, additional genetic testing of extended family members helped to confirm the inheritance of the rare mutation.
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Source & Credit @ UNC School of Medicine.