A study conducted by scientists from the deCODE Genetics department, along with their collaborators from Iceland, Denmark, and the United States, has brought new insights into the connections between diseases and chromosomal abnormalities.
Previously, it was known that chromosomal abnormalities were the main cause of miscarriages. However, it was unclear what the biological mechanisms were that correlated miscarriages with the presence or absence of chromosomal errors. The study involved more than 114,000 women from Iceland, Denmark, the United Kingdom, the USA, and Finland who experienced pregnancy loss. Fifty million sequence variants were tested, and ultimately, a low frequency of missense variant in the SYCE2 gene was discovered, which increased the risk of miscarriage by 22%.
Previous reports from deCODE scientists showed that this missense variant is associated with recombination phenotypes in chromosomes inherited from the mother. Recombination between homologous chromosomes is an essential part of meiosis, and the SYCE2 protein is a part of a protein complex that is crucial for the proper alignment of homologous chromosomes during recombination. As a result of this discovery, it is speculated that the missense variant, which increases the risk of miscarriage and disrupts the stability of the protein complex, may affect pregnancy outcomes.
Additionally, the study showed that this variant affects crossover positioning proportionally to the length of the chromosomes – the longer the chromosome, the greater the effect. Recombination effect measurements were performed on individuals born into the world. The authors of the study suggest that this effect may be more pronounced in the case of pregnancy loss, thus contributing to miscarriages. It is worth noting that the association of this variant with pregnancy loss does not include embryos that become infertile at an early stage before the pregnancy is detected. Therefore, the effect of this variant on pregnancy success may be underestimated.
The results of this scientific analysis demonstrated that a variant significant in recombination is maintained in the population despite the increased risk of miscarriages. Further studies and experiments in this field may provide new insights into the mechanisms that cause miscarriages, which is incredibly important in the healthcare sector.
FAQ Section based on the main topics and information presented in the article:
Q: What are the new insights into the connection between chromosomal abnormalities and miscarriages?
A: The study conducted by scientists showed that a low frequency of missense variant in the SYCE2 gene increases the risk of miscarriage by 22%.
Q: What are the biological mechanisms correlating miscarriages with the presence or absence of chromosomal errors?
A: Chromosomal abnormalities are the main cause of miscarriages. The missense variant in the SYCE2 gene may disrupt the stability of the protein complex and affect pregnancy outcomes.
Q: How many women participated in the study?
A: The study involved more than 114,000 women from Iceland, Denmark, the United Kingdom, the USA, and Finland who experienced pregnancy loss.
Q: What other effects did the study show?
A: The study showed that the missense variant has a greater impact on longer chromosomes, and the recombination effect may be more pronounced in the case of pregnancy loss.
Q: Is it associated with infertility in the early stages of embryo development?
A: No, the association of this variant with pregnancy loss does not include embryos that become infertile at an early stage before the pregnancy is detected.
Glossary:
1. Non-synonymous variant (missense variant) – a variant in a gene that causes a change in the amino acid sequence in the encoded protein.
2. Chromosomal abnormality – anomalies or defects in the structure or number of chromosomes.
Suggested Related Links:
1. decode.com – the official website of deCODE Genetics, where more information about the scientific research conducted by the team can be found.
2. genetics.org – the homepage of the Genetics Society of America, a scientific organization dedicated to genetic research.
The source of the article is from the blog reporterosdelsur.com.mx