The Amish community resides in various cities of Ohio, Canada, Pennsylvania, Indiana, and so on. They have a totally different kind of tradition, lifestyle, and dressing. Amish are the old religious groups and descendent of Anabaptists of the 16th century and follow purely Christian beliefs. They deny any kind of marriage with the non-Amish community to preserve their values.
The use of technology, electricity, automobiles is limited in the Amish community as they believe it to be a temptation. In 2004, a kid of the Amish community died while playing out in the yards. In a few couples of months, the sibling died in the same way as well. Subsequently, 18 kids of the Amish community died suddenly. With so many cases attacking the same community, they started believing it to be a ‘cursed death.’
How did they diagnose the problem of the Amish community?
Autopsies performed on the kids gave no correct explanation for the reason of their death. Although the autopsy suggested a respiratory problem, the cause remained unknown for a very long time. Later, they thought it might be a mutation. The lab technicians started looking for single base-pair mutations. They found nothing that could explain the condition.
In late 2019, the reason for sudden death in the Amish community was finally revealed. A mutation in the Ryr1 gene is responsible for unexpected deaths. There was a Ryr1 gene duplication in the kids. However, the variation is an autosomal recessive disorder.
What is a recessive disorder?
There are usually two copies of a gene; one is of paternal inheritance, and the other is maternal. Autosomal recessive disorder means the mutated copies from both parents is necessary to cause the disorder. Unfortunately, the kids inherited both the mutated copies from their parents who are carriers. Carriers have a single mutated allele and remain unaffected. A double dosage of the gene is necessary to affect the individual.
The Amish community is the primary victim of such disorder as they vow for intermarriage only in their community. If an individual has a mutated allele, then the off-spring has a 25% chance to be a carrier as well. Since the Amish community has a common ancestor, the off-spring is more susceptible-a 50% chance to be a carrier and a 25% chance to be affected.
What is the RyR gene that killed the Amish?
The RyR gene codes for the RyR receptor. The Ryanodine receptors are a class of intracellular calcium release receptors. They play a significant role in calcium transport and the contraction of muscles. Any change in the concentration of RyR can result in dysfunctional contractions, which can be life-threatening. In addition, they are present close to Mitochondria and involve in ATP production in the heart and pancreatic cells. They work in a positive feedback mechanism.
Related diseases
All the diseases related to RyR mutations have a common symptom of muscular weakness. Few diseases include:
- Central core disease: The muscle is devoid of an essential protein in the middle of muscle fiber. It can range from asymptomatic to severe.
- Centronuclear myopathy: Weakness can occur anytime in the life of an individual. The main symptom is slower motor skill development. Other symptoms include breathing problems as well.
- Multiminicore disease: It can range from mild to severe. The muscle of the chest wall and spine stiffens in MMD. Thus, in combination with muscular weakness and breathing problems, it can be life-threatening. They may also face difficulties while swallowing due to muscle weakness in the throat.
What disease is responsible for the mysterious death in the Amish community?
Malignant hyperglycemia is responsible for the deaths of Amish children. Affected individuals usually function until exposed to anesthetic agents: body heat, metabolism, and heart rate increases in MH. The temperature can reach up to 110°F. Above all, in prolonged cases, the conditions are severe. It can also result in brain damage, internal bleeding, cardiac arrest, and multiple organ failure.
Cardiovascular complications due to MH can be fatal. However, MH affected individuals can be susceptible to Rhabdomyolysis. The symptoms include sudden increase and fall in creatinine levels. Severe prolonged conditions can cause acute renal failure, compartment syndrome, and cardiac arrest.
In conclusion, precautions for malignant hyperglycemia are essential to avoid Rhabdomyolysis. To diagnose a RyR related disease, genetic testing, and DNA sequencing is very important. Doctors suggest Implantable cardioverter-defibrillator to slow down the heart rate to prevent life-threatening cardiac arrhythmia.
