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The Mayo Clinic has identified a genetic problem believed to have caused sudden death in 18 of 23 Amish young people who had it, according to media reports.

The study published recently in JAMA Cardiology said researchers studied two large Amish extended families that reported multiple sudden deaths, including four siblings with exercise-associated sudden deaths.

"With the help of new technology that wasn't around when they first started looking into the case, the team learned that these Amish children had all inherited the same genetic mutation from both of their parent," CNN reported.

Now that the problem has been identified, Popular Science reported, potential couples can be tested to see whether they are both carriers, and people who are at risk of sudden death because of the problem can have a defibrillator implanted.

One of the best-known medical facilities working with the Amish and other Plain community people to identify and treat genetic diseases is in Lancaster County the Clinic for Special Children in Strasburg.

The clinic wasn't involved in the study, according to spokeswoman Kelly Cullen. However, she said, lab director Dr. Erik Puffenberger checked its thousands of records for RYR2, the gene involved. None were affected, she wrote, only three were carriers of the gene, and only one of those people was local to Lancaster County, "demonstrating that the RYR2 genetic variant is very rare in our area."

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However, she wrote, the clinic is planning to add RYR2 to the next version of its Plain Insight Panel, which screens for thousands of genetic variants known to cause problems across the Plain communities of North America.

See the article here:
18 Amish young people died suddenly; Mayo Clinic identified genetic problem believed to be responsible - LancasterOnline

This entry was posted on January 20, 2020 at 5:48 am and is filed under Genetics. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |