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No one knew why children in two Amish families died suddenly. They just discovered some answers

2020-01-17T03:27:58.921Z


An Amish family from the USA He lost four of his children suddenly in less than 10 years. Autopsies offered no clue and parents felt they had a curse on them.


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Steps to prevent sudden infant death 5:52

(CNN) - About 15 years ago, an Amish family in the eastern United States was struck by an inexplicable tragedy: one of their children died suddenly while playing and running. A few months later, another of his children suffered the same fate. At six years they lost a son again. And two years later the tragedy repeated itself.

Autopsies offered no clue. The children's hearts seemed to be normal. The family said they had "the curse of sudden death." Also, forensic doctors couldn't figure out why.

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After the death of the first two children, a forensic who performed the autopsies contacted researchers at the Windland Smith Rice Sudden Death Genomics Laboratory at the Mayo Clinic in 2004. The researchers at this place pioneered the concept of Molecular autopsy, when using genetic tests to understand the cause of sudden and unexplained deaths. The coroner wanted to see if they could find clues about the mystery that affected the Amish community.

A new study published in JAMA Cardiology throws clues about what caused the sudden death of several Amish children. (Credit: William Thomas Cain / Getty Images)

The team suspected that a gene called RYR2 would be the culprit: mutations in this gene can cause an arrhythmia heart disorder that can lead to fainting, seizures or even sudden death. But when they analyzed the gene for mutations they found nothing.

The case remained without progress for more than a decade. As the years went by, pediatric cardiologists and genetic counselors from other parts of the country contacted the laboratory with cases of other Amish families, whose children had also died suddenly. Everyone was looking for answers to this heartbreaking phenomenon.

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Then, last week, researchers from the Mayo Clinic laboratory reported a breakthrough, which was published in the journal JAMA Cardiology . With the help of new technology that was not available when they began investigating the case, the team discovered that all these Amish children inherited the same genetic mutation from their two parents. And of the 23 young people who received the inheritance of that mutation, 18 died suddenly.

"When we began to build the family structure, it became clear to us that it was probably a recessive disorder," David Tester, the case's chief scientist, told CNN. "With more information and new technological advances in terms of being able to observe genes, we were able to put together this puzzle," he added.

The children probably had a common ancestor

It turns out that the culprit was RYR2, the gene that the researchers suspected from the beginning. But there was not a single mutation in the gene. More than 300,000 base pairs in the gene had doubled.

"We finally discovered that it was an autosomal recessive disorder in which the two anomalous duplications came from both parents, and those children had the bad luck of receiving the double dose," Michael Ackerman, director of the Death Genomics Laboratory, told CNN. Sudden Windland Smith Rice.

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To develop the duplication that causes sudden death, a child has to inherit from each parent a gene with a mutation, whose chances are 25%. That four children from the same family have inherited the mutation and suffered sudden deaths is incredibly unfortunate, Ackerman said.

Amish may be more vulnerable to hereditary recessive conditions because they descend from a small number of ancestors and tend to marry each other, Tester said. The two families studied in the research are apparently unrelated, but since all children had exactly the same duplication in a gene inherited from both parents, Ackerman said they are likely to have a common ancestor.

The discovery can help prevent sudden death

Now that researchers know about this genetic marker, there are measures that medical professionals can take to prevent sudden deaths in other Amish children, Tester said.

"With this genetic biomarker, we can now easily evaluate any individual for the presence of the mutation," he said. "Having that possibility can potentially save lives," he added.

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Knowing who inherited the mutation and who is not the first step in preventing tragedies such as those experienced by the families in the study, Ackerman added. If adults who carry the mutation know they have it, they can make informed decisions about whether or not to marry another person who is also a carrier.

Now, there are still challenges ahead. For children who inherited the mutation and are at risk of sudden death, the only solution to prevent it is an implantable automatic defibrillator (ICD), which can be extremely expensive. Ackerman stressed that his team is working to understand more about the causes of duplication in the gene in order to develop a drug to prevent it, a treatment that would be much more accessible.

"We are working at full speed to try to solve this for the Amish community," he said.

But for now, Ackerman hopes the discovery will provide some closure to families that have lost loved ones.

"We have finally discovered the curse of sudden death for the Amish community and now they have peace of mind about the reason," he said.

Death Sudden death Mutations Genetic mutations

Source: cnnespanol

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