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Wednesday, May 22, 2024

Variant increasing risk of pregnancy loss

Scientists from the genetic research center, deCODE genetics, and their collaborative partners in Iceland, Denmark, the United States, and beyond have made a significant discovery. They have recently published their findings in a study titled “Variant in the synaptonemal complex protein SYCE2 is associated with pregnancy loss through effects on recombination,” featured in Nature Structural & Molecular Biology. This groundbreaking study reveals an essential finding, offering insight into the underlying biology of pregnancy loss.

The pioneering research is a culmination of work conducted by experts from multiple countries. With a collective focus on understanding the causes of pregnancy loss, the study observed over 114,000 women from Iceland, Denmark, the United Kingdom, the United States, and Finland who had experienced miscarriages. Throughout this genome-wide association study, the researchers tested 50 million sequence variants to identify a low-frequency missense variant in the SYCE2 gene. This variant was found to increase the likelihood of pregnancy loss by 22%, demonstrating the significant impact it has on pregnancy health.

The study builds upon the previous work done by deCODE scientists, who have linked the SYCE2 variant to recombination phenotypes related to chromosomes passed down maternally. These recombination events are crucial to the process of meiosis, which is the mechanism responsible for generating human eggs and sperm. In their analysis, the team found that the SYCE2 variant has the potential to disrupt the stability of the protein complex, thus impacting the alignment of chromosomes for recombination.

Further investigation into the impact of the variant revealed correlations between its effects on recombination and the length of the affected chromosomes. Impressively, these findings provide insights into the role of the variant in recombination positioning, following the realization that longer chromosomes experienced greater effects. This discovery represents a significant advancement in understanding the complex relationships linked to pregnancy loss.

Notably, the researchers highlight that pregnancy losses not yet detected could further underscore the influence of the variant on the overall success of pregnancy. This perspective raises the possibility of underestimating the variant’s effect on pregnancy, providing substance for future research considerations. Despite intensifying the risk of pregnancy loss, the variant has managed to maintain its prevalence within the population, which is a significant revelation in the field of genetic research.

Headquartered in Reykjavik, Iceland, and affiliated with Amgen, deCODE is globally recognized for its advancements in the analysis and comprehending of the human genome. Leveraging a vast wealth of expertise and population resources, deCODE has achieved numerous breakthroughs in uncovering genetic risk factors associated with a wide array of common diseases. Remarkably, deCODE is a fully-owned subsidiary of Amgen, a renowned healthcare leader on NASDAQ.

In addition to this, for more in-depth visual insights into this research, it’s encouraged to access this linked image providing an insightful depiction of the projects leader at deCODE genetics and CEO of deCODE genetics.

Lastly, these findings have opened up endless possibilities for future research in understanding the underlying biology of pregnancy loss, marking a significant milestone in genetic and reproductive science.

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