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Genetic mutation blamed for mysterious heart condition killing young members of Amish community

| | January 15, 2020

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[D]octors at the Mayo Clinic say they’ve uncovered the cause of a mysterious heart condition that had suddenly killed over a dozen young, healthy members of a tight-knit Amish community. The culprit? A previously undiscovered genetic mutation that runs in families.

As is often the case with smaller, isolated communities of people, the Amish have more in common genetically with one another than people living in a typical modern community do with their neighbors. Unfortunately, the less genetically diverse a population is, the easier it is for harmful genetic conditions to emerge and be passed down to the next generation.

The mutation and the condition it causes—coined “calcium release channel deficiency syndrome” by the team—still needs to be studied by other researchers before it can be confirmed as a genuine disorder. But so far, 23 people have been identified with the mutation, with 18 having died, across the two families, while more relatives are being tested by the team. [Cardiologist Michael] Ackerman said his team’s work has been greatly appreciated and celebrated by the families.

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Read full, original post: A Genetic Mutation Is Responsible for Mysterious Deaths in the Amish Community, Researchers Say

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