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A research team led by University College London has discovered a new gene that can cause hypertrophic cardiomyopathy, an inherited heart disease that affects one in 500 people
The findings published in the European Heart Journal provide a new causal explanation for 1-2% of adults
As a result of this research, the new causal mutation, that is, the deletion of ALPK3 (alpha-protein kinase) mutation, should add genetic testing/examination, allowing doctors to identify more people developing risk conditions, so who will benefit from regular monitoring
In hypertrophic cardiomyopathy, the heart muscle is thicker, which may make it more difficult for the heart to accept and pump blood
About half of the cases have known genetic causes, which are related to 8 to 10 specific genes (only two of these single genes were discovered in the past decade)
Lead author Dr.
"Identifying a new genetic cause is important because it opens up new possibilities for potential treatments
In this new study, an international research team analyzed the genomes of 2,817 patients with hypertrophic cardiomyopathy from Spain, the United Kingdom, Denmark, Russia, Latvia, Brazil, and Argentina
The researchers also studied the existence of this variant in the family, and tested whether it is causal by observing whether the variant is related to the disease—that is, whether family members who have this variant also suffer from it.
The research team compared this disease with a disease caused by a gene defect in the sarcomere, which is the main mode of inheritance of this disease
They found that in the cases related to the new gene, the disease was diagnosed later (average age 56 years), but the incidence of heart failure and heart transplantation was similar to the cases related to the sarcomere gene
Although little is known about the functional consequences of ALPK3 mutations, it is believed that they play a role in the regulation of protein function through the process of phosphorylation
Dr.
In the UK, genetic testing is diagnosed for people with hypertrophic cardiomyopathy, such as at the Butts Heart Center, and family members, if there is a known genetic cause
DOI
https://doi.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
