The Mystery of Sudden Death Among Amish Is Finally Solved

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There was this Amish family in the United States who was filled with sorrow after four of their children died. Those children were just playing when they suddenly collapsed and died.

The doctors cannot identify the cause of death. Their bodies were normal. They do not have any pre-existing conditions. There weren't any injuries or trauma which could indicate accidents. 

And these cases are not unique to them. In fact, many Amish families suffered from this so-called "the curse of sudden death".

Their death remained a mystery among medical examiners for years. Pediatric cardiologists and genetic counselors in different parts of the country were reached out in the hope of providing insights on this.

But 15 years later, the endeavor has finally born fruits. Scientists have finally found out the root cause: a genetic mutation.

The Cursed Genes

Since 2004, the molecular biologists from Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory have been suspecting that a gene called RYR2 is causing the exercise-fainting spells that often lead to sudden cardiac death. However, it was disregarded because they did not see any mutation at all.

But last week, researchers at the Mayo Clinic published a paper in JAMA Cardiology. They claimed that they found out the cause, and it is, in fact, the same gene.

The lead scientists, David Tester, said that new information and equipment have allowed them to "put this puzzle together". 

Through modern technologies that did not exist before, they found out that the RYR2 has at least 300,000 mistakes. All of the four children have this gene, which they got from both of their parents.

Additionally, there have found 23 other people who have inherited RYR2, and 18 of them have sudden deaths.

According to the study, the chance of inheriting it from parents who carry the ggenesis25 percent. And the case of the family is really unfortunate, said Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory.

A common ancestor

The parents of the family, for instance, are not related to each other both of them carry the genes. Ackerman explained that this is probably because they have the same ancestor. 

Tester said that since the Amish came from a small number of ancestors and have a tendency to intermarry, they are really vulnerable to inheriting such recessive conditions

But the discovery could help save lives, Ackerman added.

The first step will be identifying which people carry the genes. This can be done through knowing which family has a history of this "sudden death curse". Ackerman suggested that it must be considered on marrying another person.

And for children who have a high risk of sudden death, there is a preventable solution: an implantable cardioverter defibrillator (ICD). However, this could be extremely expensive.

But Ackerman said that his team is studying the genetic disorder more so that they could develop a more accessible treatment to prevent it.

For now, Ackerman hoped that this discovery will finally put the mind of the mourning family at ease since it answers the mystery already.

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