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Mysterious cluster of 18 deaths among Amish children has finally been solved thanks to genetic technology

Eighteen Amish children – who died mysteriously over the course of 15 years – had all inherited a defective gene from the same ancestor, a new report has discovered.

Mutation of the RYR2 gene in the heart muscle caused the organ to stop suddenly in the otherwise healthy boys and girls who ran or played when they died.

Although it is only 25 percent likely that a child would inherit the mutation from both parents, the likelihood in these cases of two extended families had increased enormously due to the limited gene pool in Amish communities.

Doctors were initially stunned by the wave of deaths from heart failure that surfaced in several states including Pennsylvania, Delaware, Kentucky and Iowa from 2004.

Mutation of the RYR2 gene in the heart muscle caused the organ to stop suddenly when the heartbeat was increased. It is only 25 percent likely that a child would inherit the mutation from both parents, but there is a limited gene pool in Amish communities, which increased the chances (stock image)

Mutation of the RYR2 gene in the heart muscle caused the organ to stop suddenly when the heartbeat was increased. It is only 25 percent likely that a child would inherit the mutation from both parents, but there is a limited gene pool in Amish communities, which increased the chances (stock image)

The first death took place in Rochester, Minnesota in 2004, when a 12-year-old girl suddenly died while playing. Her younger sister died months later under similar circumstances.

When their autopsies returned negative for a known cause of death, coroners stunned contact with geneticists.

Even the laboratory they went to, which specializes in inexplicable deaths, couldn’t find out what had caused their heart failure.

RYR2 is a protein that occurs primarily in the heart muscle. The mutation seems to cause the heart to suddenly stop beating when the heart rate is increased.

But the scientists were unable to notice these small changes in the gene, because the technology could only look at one gene at a time.

Another child from the same Amish family in eastern US died six years later and another brother or sister died the following year.

Researchers could look again at four more comparable deaths last year.

Advanced technology meant that they could look into each gene and look at individual DNA strands.

“With more information and more technological progress in terms of being able to look at genes, we were able to put this puzzle together,” said David Tester, the lead scientist in the case. CNN.

“When we started building the family structure, it became clear to us that this was probably a recessive disorder.”

The Wind team, part of the Mayo Clinic, discovered that more than 300,000 segments of the RYR2 gene had been duplicated.

The defect can only be passed on if both biological parents had it.

And the mother and father can both live completely healthily without having any effect on their health.

Of the 23 people who had inherited the mutated gene, 18 died suddenly.

They came from two extended families, suggesting that they had a common ancestor.

WHAT KILLED THE CHILDREN?

In any case, the otherwise healthy boys and girls were running around or playing and not doing anything particularly dangerous.

Their hearts suddenly stopped beating when the heartbeat was increased.

Scientists discovered that they all shared a defective RYR2 gene.

RYR2 is a protein that occurs primarily in the heart muscle.

The mutation seems to cause the heart to suddenly stop beating when the heart rate is increased

The team discovered that more than 300,000 segments of the RYR2 gene had been duplicated.

The defect can only be passed on if both biological parents had it.

Experts say the defect only occurred with Amish children because of their close communities and they only marry each other.

“We finally discovered that it was an autosomal recessive disorder where both bad duplications came from both parents, and those kids didn’t have the double dose,” Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, part of the Mayo Clinic CNN said.

The Amish are a group of traditional Christian denominations that are known for their simple lifestyle, simple clothing, and reluctance to use modern technology.

Experts could only find the cause of what is known as “the curse of sudden death” because of families that allowed them to study the genes.

Ackerman said there is only one known treatment for the defect: an implantable cardioverter defibrillator.

An ICD is a small, battery-powered device that is placed in your chest to monitor heart rhythm and detect irregular beats.

It can deliver electrical shocks through one or more wires connected to make the heart beat when its muscles stop.

The researchers say they are working on a screening test for couples who do not want to pass on the genes to their offspring.

The study summary said that “given the high degree of kinship in Amish families, identification of unaffected heterozygous carriers may provide life-saving pre-marital counseling and reproductive planning.”

“With this genetic biomarker, we can now easily test each individual for the presence of the mutation,” said Tester. “Having that skill could potentially save lives.”

Ackerman added: ‘We are going fast and furiously to try and figure this out for this Amish community. We have finally discovered the curse of sudden death for the Amish community and they now have peace of mind about the reason. “

Dr. Ackerman and his colleagues published their findings JAMA Cardiology.

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