#Iceland #Reykjavik #deCODE genetics #pregnancy loss #genetic mutations

Groundbreaking Study on Genetic Mutations and Miscarriage

A recent study published in Nature titled "Sequence Diversity Lost in Early Pregnancy" has unveiled alarming findings regarding the genetic underpinnings of pregnancy loss. Researchers at deCODE Genetics, a subsidiary of Amgen, estimate that as many as one in 136 pregnancies ends in miscarriage due to lethal genetic mutations in the fetus. This insight highlights a staggering reality: millions of pregnancies worldwide are lost every year, largely driven by these mutations.

The human genome exhibits variations, but certain regions show minimal to no sequence variation among individuals. This study raises significant questions about whether the sequences in these critical regions are essential for human development. While it is known that mutations in crucial genomic sequences can contribute to neurodevelopmental disorders, it is equally important to explore their role in miscarriage.

As part of a Nordic collaboration, the researchers analyzed 467 samples from a prospective study initiated by Henriette Svarre Nielsen and Eva R. Hoffmann, focusing on pregnancies that ended in loss. The findings were indeed intriguing. When comparing the genomes of miscarried fetuses to those of their parents, the scientists noted that the fetuses contained a comparable number of novel mutations to those found in adults. However, the critical difference uncovered was that the mutations present in the miscarried fetuses predominantly occurred in essential genomic sequences.

Hákon Jónsson, a scientist at deCODE Genetics and one of the paper's authors, explained, "Despite the similar numbers of mutations, the primary distinction was that the mutations in fetuses were concentrated in vital genomic sequences, which could explain their role in pregnancy loss."

In addition to mapping these new mutations, the researchers were able to pinpoint when during fetal development these mutations occurred. Notably, for some couples, genetic compatibility issues were identified as a higher risk factor for miscarriage. Typically, an individual inherits one copy of a gene from each parent, and while a defective copy may not lead to issues in most cases, problems arise when both faulty copies are inherited.

Guðný A. Árnadóttir, another scientist involved in the research, noted, "Previously, we demonstrated that two defective copies of certain genes are never observed in adult genomes. However, we identified instances of both copies being defective in some miscarriage cases. This finding suggests a significant risk of recurrent pregnancy loss for the couple, which can be evaluated during IVF treatments."

The continuous generation of mutations, along with genetic recombination, allows humanity to evolve as a species. However, this ongoing influx of mutations comes at the cost of rare diseases. This study sheds light on the influence of mutations on miscarriage, offering new understanding of the conserved sequences within the human genome.

Based in Reykjavík, Iceland, deCODE Genetics is a global leader in the analysis and understanding of the human genome. With its unique expertise and population resources, deCODE has discovered genetic risk factors for numerous common diseases. The goal of this research is to utilize genetic insights to develop new methods for diagnosis, treatment, and prevention of diseases. Notably, deCODE Genetics operates as a wholly-owned subsidiary of Amgen, further enhancing its capabilities in genetic research and analysis.

This research not only deepens our understanding of pregnancy loss but also opens avenues for exploring potential genetic screenings for couples with repeated miscarriages. As science advances, understanding the genetic landscape of pregnancy will be vital for offering hope and solutions to those affected by the tragedy of miscarriage.