Latest news with #deCODEgenetics
Korea Herald
23-05-2025
- Health
- Korea Herald
Lethal mutations in pregnancy loss
REYKJAVIK, Iceland, May 21, 2025 /PRNewswire/ -- In a study published in Nature today "Sequence diversity lost in early pregnancy," scientists from deCODE genetics, a subsidiary of Amgen, estimate that around one in 136 pregnancies are lost due to new mutations in the fetus. In other words, millions of pregnancies worldwide are lost because of mutations every year. The human genome varies between individuals, but there are some locations in the genome where there seems to be little or no sequence variation between individuals. This raises the question whether the sequences at these locations are essential for human development? It is known that mutations in essential genomic sequences are major contributors to neurodevelopmental disorders, the question remains, do they also contribute to pregnancy loss? As part of a Nordic collaboration, scientists from deCODE genetics sought to answer these questions by sequencing 467 samples from pregnancy losses from a prospective study initiated by Henriette Svarre Nielsen and Eva R. Hoffmann. Interestingly, by comparing the genomes of the fetuses from pregnancy losses to their parents the scientists found that the fetuses harbored a similar number of new mutations as adults. "Despite the similar numbers, we discovered that the main difference between the lost fetuses and adults was that the mutations in the fetuses occurred in essential genomic sequences," says Hákon Jónsson scientist at deCODE genetics, and one of the authors on the paper. Moreover, they managed to pinpoint when, in the development of the fetus, some of the mutations occurred. In addition to mapping new mutations in the lost fetuses, they also showed that some couples are at a higher risk of pregnancy loss due to genetic compatibility issues. You inherit one copy of a gene from each parent, and most of the time, you are fine with one defective copy, but problems can arise if you inherit a defective copy from both parents. "We have shown previously that for certain genes, you never observe two defective copies in adult genomes, but we found two defective copies in some of the pregnancy losses. Importantly, these involve a high risk for recurrence of pregnancy loss for the couple but can be selected against in IVF treatments," says Guðný A. Árnadóttir scientist at deCODE genetics, and one of the authors on the paper. Along with recombination, the continuous generation of mutations enables us to evolve as a species. However, this continuous influx of new mutations comes at the expense of rare diseases. This study demonstrates the contribution of mutations to pregnancy loss and sheds new light on conserved sequences in the human genome. Based in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE genetics is a wholly-owned subsidiary of Amgen.
Globe and Mail
21-05-2025
- Health
- Globe and Mail
Lethal mutations in pregnancy loss
REYKJAVIK, Iceland , May 21, 2025 /CNW/ -- In a study published in Nature today "Sequence diversity lost in early pregnancy," scientists from deCODE genetics, a subsidiary of Amgen, estimate that around one in 136 pregnancies are lost due to new mutations in the fetus. In other words, millions of pregnancies worldwide are lost because of mutations every year. The human genome varies between individuals, but there are some locations in the genome where there seems to be little or no sequence variation between individuals. This raises the question whether the sequences at these locations are essential for human development? It is known that mutations in essential genomic sequences are major contributors to neurodevelopmental disorders, the question remains, do they also contribute to pregnancy loss? As part of a Nordic collaboration, scientists from deCODE genetics sought to answer these questions by sequencing 467 samples from pregnancy losses from a prospective study initiated by Henriette Svarre Nielsen and Eva R. Hoffmann. Interestingly, by comparing the genomes of the fetuses from pregnancy losses to their parents the scientists found that the fetuses harbored a similar number of new mutations as adults. "Despite the similar numbers, we discovered that the main difference between the lost fetuses and adults was that the mutations in the fetuses occurred in essential genomic sequences," says Hákon Jónsson scientist at deCODE genetics, and one of the authors on the paper. Moreover, they managed to pinpoint when, in the development of the fetus, some of the mutations occurred. In addition to mapping new mutations in the lost fetuses, they also showed that some couples are at a higher risk of pregnancy loss due to genetic compatibility issues. You inherit one copy of a gene from each parent, and most of the time, you are fine with one defective copy, but problems can arise if you inherit a defective copy from both parents. "We have shown previously that for certain genes, you never observe two defective copies in adult genomes, but we found two defective copies in some of the pregnancy losses. Importantly, these involve a high risk for recurrence of pregnancy loss for the couple but can be selected against in IVF treatments," says Guðný A. Árnadóttir scientist at deCODE genetics, and one of the authors on the paper. Along with recombination, the continuous generation of mutations enables us to evolve as a species. However, this continuous influx of new mutations comes at the expense of rare diseases. This study demonstrates the contribution of mutations to pregnancy loss and sheds new light on conserved sequences in the human genome. Based in Reykjavik, Iceland , deCODE genetics is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE genetics is a wholly-owned subsidiary of Amgen.
Cision Canada
21-05-2025
- Health
- Cision Canada
Lethal mutations in pregnancy loss
REYKJAVIK, Iceland, May 21, 2025 /CNW/ -- In a study published in Nature today "Sequence diversity lost in early pregnancy," scientists from deCODE genetics, a subsidiary of Amgen, estimate that around one in 136 pregnancies are lost due to new mutations in the fetus. In other words, millions of pregnancies worldwide are lost because of mutations every year. The human genome varies between individuals, but there are some locations in the genome where there seems to be little or no sequence variation between individuals. This raises the question whether the sequences at these locations are essential for human development? It is known that mutations in essential genomic sequences are major contributors to neurodevelopmental disorders, the question remains, do they also contribute to pregnancy loss? As part of a Nordic collaboration, scientists from deCODE genetics sought to answer these questions by sequencing 467 samples from pregnancy losses from a prospective study initiated by Henriette Svarre Nielsen and Eva R. Hoffmann. Interestingly, by comparing the genomes of the fetuses from pregnancy losses to their parents the scientists found that the fetuses harbored a similar number of new mutations as adults. "Despite the similar numbers, we discovered that the main difference between the lost fetuses and adults was that the mutations in the fetuses occurred in essential genomic sequences," says Hákon Jónsson scientist at deCODE genetics, and one of the authors on the paper. Moreover, they managed to pinpoint when, in the development of the fetus, some of the mutations occurred. In addition to mapping new mutations in the lost fetuses, they also showed that some couples are at a higher risk of pregnancy loss due to genetic compatibility issues. You inherit one copy of a gene from each parent, and most of the time, you are fine with one defective copy, but problems can arise if you inherit a defective copy from both parents. "We have shown previously that for certain genes, you never observe two defective copies in adult genomes, but we found two defective copies in some of the pregnancy losses. Importantly, these involve a high risk for recurrence of pregnancy loss for the couple but can be selected against in IVF treatments," says Guðný A. Árnadóttir scientist at deCODE genetics, and one of the authors on the paper. Along with recombination, the continuous generation of mutations enables us to evolve as a species. However, this continuous influx of new mutations comes at the expense of rare diseases. This study demonstrates the contribution of mutations to pregnancy loss and sheds new light on conserved sequences in the human genome. Based in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE genetics is a wholly-owned subsidiary of Amgen.
Yahoo
25-03-2025
- Health
- Yahoo
Rare loss-of-function variants in HECTD2 and AKAP11 confer a risk of bipolar disorder
Scientists at deCODE genetics, a subsidiary of Amgen, reveal today in Nature Genetics associations between rare loss-of-function variants in two genes and bipolar disorder. REYKJAVIK, Iceland, March 25, 2025 /PRNewswire/ -- Bipolar disorder is characterized by extreme mood swings, bouts of mania or hypomania, and episodes of depression. It is a highly heritable and serious condition, that when untreated comes with a high suicide rate. While there are several mood-stabilizing drugs available to treat the disorder, pharmaceutical treatment of bipolar disorder can have difficult side-effects and better treatments are urgently needed. Significant progress has occurred over the last 15 years through genome-wide association studies leading to the identification of hundreds of biomarkers, i.e. DNA sequence variants, associated with the risk of psychiatric disease, including bipolar disorder. These biomarkers represent common variations each carrying a small risk, but in confluence, they are beginning to account for a considerable part of the variance in psychiatric traits and disorders. Variants predicted to cause loss of function of genes tend to be rare but hold great promise for informing on the underlying biology. To harness the information contained in rare loss-of-function (LOF) variants, the scientists performed a variant burden analysis for bipolar disorder using gene-based aggregation of LOF variants in whole genome sequencing data from Iceland and the UK Biobank and using data from the Bipolar Exomes study (BipEx, for replication and further meta-analysis efforts. The study revealed the association of LOF variants in two genes (HECTD2 and AKAP11) with bipolar disorder. Both associations with bipolar disorder are novel, but AKAP11 has previously been associated with psychosis and schizophrenia. AKAP11 encodes an anchoring protein, that regulatory subunits of protein kinase A (PKA) bind to, leading to confinement of PKA to specific cellular locations. HECTD2 encodes an E3 ubiquitin ligase, that adds multiple ubiquitin groups to proteins, thereby labeling them for destruction by the proteasome. The products of both AKAP11 and HECTD2 interact with GSK3β, a protein inhibited by lithium, the most effective mood stabilizer available to treat bipolar disorder. These findings point to the dysfunction of specific cellular pathways in bipolar disorder and cast the gene products of AKAP11 and HECTD2 along with GSK3β as promising targets in the search for new treatments for bipolar disorder. Based in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE genetics is a wholly-owned subsidiary of Amgen. SOURCE deCODE genetics
