Mutations of gene are linked to pregnancy sickness

Mutations of gene are linked to pregnancy sickness ...

Most women experience nausea and vomiting during pregnancy, but a condition known as hyperemesis gravidarum (HG), which causes nausea and vomiting so severe that it may lead to starvation, nutrient deficiency, and problems with fetal development. HG can be passed down in families, and most women who experience it in one pregnancy will have a recurrence in other pregnancies. HG has long been poorly understood and therefore undertreated, putting them at greater risk of pregnancy termination

A new study from a team of researchers at theKeck School of Medicine of theHyperemesis Education and Research (HER) has found that mutations or variants in the GDF15 gene are linked to HG. These findings are presented this week inBJOG: An International Journal of Obstetrics and Gynaecology, which has been published. The findings suggest that previous paradigm-shifting research ties the GDF15 gene to HG may be useful in anticipating who may be at danger

This breakthrough, according to Marlena Fejzo, a faculty researcher at the Keck School of Medicine and the lead author, leads us in a new direction. Our study has demonstrated that abnormalities in the GDF15 gene and the protein it codes for are the primary cause of HG.

The discovery teaches the possibility that clinicians will ultimately be able to provide a timelier prediction and diagnosis of HG, possibly through genetic testing, as well as treatment options designed specifically to treat its underlying cause.

This condition can be very difficult and, without knowing its purpose, we haven''t had specialized medications to offer patients, according to Patrick M. Mullin, an associate professor of clinical obstetrics and gynecology at the Keck School of Medicine and a coauthor. We hope that understanding the genetic basis of HG will aid the development of more targeted approaches to treatment.

The genetic basis of HG

The researchers studied 926 women with HG pregnancies and 660 women who had normal nausea and vomiting while pregnant. Only one gene differed significantly between the two groups: the gene that codes for a cellular stress hormone called GDF15, which is present at high levels in the placenta. This hormone is a unique component of the brain that controls nausea and appetite. Using the GDF15 hormone, the researchers showed that the body is sensitive to the symptoms of HG.

In previous research, the team found a link between the GDF15 gene and HG in a genome-wide association study. TheBJOGfinding builds on this collaboration by confirming the link in a separate group of participants using whole-exome sequencing, a different genetic analysis technique that allows researchers to sequence large amounts of DNA to find rare mutations in genes. Among other things, researchers found two variations of the GDF15 gene associated with HG. This suggests that abnormalities in the GDF15 gene play

The study included a more diverse participant pool, indicating a similar trend toward an association of the common GDF15 gene variant and HG in African, Asian, and Hispanic people, suggesting that the results might be generalizable to the larger population.

Cancer cachexia, a wasting disorder that causes weight loss, malnutrition, and appetite loss, is involved in clinical trials of cachexia medications that block the GDF15 signaling pathway, which demonstrate promise for reduction nausea and weight loss. These medications may ultimately be beneficial for HG patients, however.

Providing clinicians and patients with a evidence-based cause of HG might reduce the historical stigma and allow patients to be taken more seriously, resulting in improved care and healthier mothers and babies, according to Fejzo.

Improving maternal and fetal health

Women with HG lose at least 5% of their body weight during pregnancy, putting weight gain at an all-time high. Some individuals have debilitating condition and become nutrient deficient, with most severe cases resulting in fatalities including Wernickes encephalopathy.

The condition does not just harm mothers. Infants born to women with HG are five times more likely to be young for their gestational age than infants of healthy mothers. This is because babies with HG have a higher risk of tobacco, cocaine, or amphetamine use. Babies with HG have also greater developmental difficulties, including a higher risk for autism.

Patients with the HG and their babies can suffer greatly and may even die, and this research is making much progress towards understanding the disease, according to Fejzo.

Next, the team aims to further elucidate the link between GDF15 and HG through clinical and biological data, for example to determine whether levels of the GDF15 hormone can predict the event of HG. They are currently measuring GDF15 hormone levels in blood samples from women with and without HG, comparing that data to clinical indications of nausea and vomiting severity.

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