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  • Study Links Tandem Repeat Expansions to Cardiomyopathy Risk

    In a pioneering study conducted by The Hospital for Sick Children (SickKids), scientists have utilized whole genome sequencing to investigate tandem repeat expansions (TREs) in the context of cardiomyopathy, a genetic heart condition. This research could pave the way for early detection and the development of targeted treatments for the disease, which affects the heart's structure and function, potentially leading to heart failure.

    Published in eBioMedicine, the study highlights the prevalence of TREs in individuals diagnosed with cardiomyopathy, suggesting these genetic variations could be responsible for approximately four percent of cases. TREs, which have been linked to over 60 different conditions, many of which have a hereditary aspect, are sequences of DNA that are repeated adjacent to each other. In cardiomyopathy patients, these repeats are more commonly expanded.

    Dr. Ryan Yuen, the study's co-lead and Senior Scientist in the Genetics & Genome Biology program at SickKids, emphasized the significance of their findings, stating, "Previously the extent of TREs involvement in cardiomyopathy was unclear. We now know another way to identify those who have a higher risk of developing the condition, which may eventually help clinicians diagnose patients sooner."

    The study also revealed a specific correlation between TREs in the DIP2B gene and an increased risk of cardiomyopathy. This discovery is crucial for the development of precision therapies, aligning with the Precision Child Health initiative at SickKids, which aims to provide tailored care to each patient.
    Dr. Seema Mital, co-lead of the study, Staff Cardiologist, and Head of Cardiovascular Research at SickKids, highlighted the importance of genetic understanding in medical treatment, "The better we understand the genetics of a condition, the more precise our treatments can become, informing care for people with cardiomyopathy and many other conditions with a genetic component."

    The research team analyzed the genomes of 1,200 individuals with cardiomyopathy and noted an increased presence of TREs, particularly in genes affecting the heart's left ventricle. The study also observed that children of parents with cardiomyopathy exhibited larger TREs, a phenomenon known as "genetic anticipation," which can lead to a more severe and earlier onset of the disease.

    To conduct their analysis, the team employed novel computational methods developed in Yuen's lab and The Centre for Applied Genomics (TCAG) at SickKids. These methods allowed the researchers to examine the entire genome sequence data to locate the exact position and size of TREs within an individual's genome. Dr. Aleksandra (Sasha) Mitina, a postdoctoral fellow in Yuen’s lab and first author of the study, noted the significance of whole genome sequencing in providing a comprehensive view of a person's genetic predisposition.

    The study's findings open up new avenues for research into TREs and their role in cardiomyopathy and other genetic conditions. Yuen's future research aims to explore other regions of the genome that could be instrumental in developing treatments for various diseases.

    Funded by multiple sources, including the Government of Ontario, the Canadian Institutes of Health Research (CIHR), and the Ted Rogers Centre for Heart Research, this study also acknowledges the contribution of families participating in the Heart Centre Biobank registry at SickKids, whose involvement was crucial for the research's success.

    Original Publication:
    Mitina, Aleksandra, et al. “Genomewide Enhancer-associated Tandem Repeats Are Expanded in Cardiomyopathy.” EBioMedicine, doi.org/10.1016/j.ebiom.2024.105027, https://doi.org/10.1016/j.ebiom.2024.105027. Accessed 28 Feb. 2024.

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