For a long time, two girls from Austria and England and a Canadian boy at 4, 6 and 10 years were very unsure.
Despite a great distance between them, they suffered from the only remarkable mark that was not; can be handled or reduced:
Frequent contamination, development development and, in particular, there is no magnesium in the sound. It is a material that is essential for chemical diversification in the body.
The doctors believe that obsolete oxygenids are less likely to have data.
Any similar family members have no similar symptoms, and magnesium developments have not helped. It seems that the group can not accept the essential material.
In a new study, a research group now provides explanations. There may be several children with the same illness, they appear; mean.
The three children are not alone alone
Children's difficulties seemed to come from modifications or errors in the DNA – from a small but essential pump, anchor to the surface of cells; body.
The motions on the so-called sodium potassium pump were destroyed.
Pump gave him the Danish Nobel Prize
In the Danish context, a & # 39; potato sodium pot.
The Danish doctor and geologist of Jens Christian Skou discovered the pump, and won a Nobel Prize in chemistry in 1997.
Jens Christian Skou died in May 2018, 99.
So researchers found a new, rare disease and an explanation of the secret symptoms.
But although the disease is very rare, there may be a number of issues that appear in the coming years, says Professor Bente Vilsen, one of the researchers on behind the new survey.
– We have mapped a bad illness that has been recognized so far, which has so far been only three cases, but they are not alone. I believe that this article will be # 39; Many other children recognize, saying Vilsen, who works at the Biomedicine Department at Aarhus University.
The illness is still not known, but the starting term is "Renal Hypomagnesemia, Heat Ships, and Intelligible Disability," said Vilsen.
Pump uses very energy
In order to understand what the researchers have discovered, we need to define what's in; potassium sodium button.
It is a method that you do not give a comment in & # 39; everyday life, but the body is always dealing with.
Although the pump sodium potassium is so small that it is not even visible in a microscope, Use a quarter of your energy to power it. Always.
As the name is output, it is & # 39; Pumps of sodium iones and potassium iones, which are the finals of electricity.
To complete this work, the energy pump must be used by the ATP energy mills. The ATP is also called the gasoline of the organization.
– Most of the energy we get from the food has been converted to ATP, and & # 39; explains Claus Juul Eoghainn Associate Professor of the Ethnology Department at the University of Copenhagen.
It has not been part of the new research, but it also investigates structures and cell surface bookings activities.
Cells talk together over electricity
For each round of pumps pumps potassium sodium, it will use ATP molecle. Then, three sodium ions will be pumped out of the cell and two ion potassium into.
As an electric device has an injection, voltage difference occurs on the surface of the cells (known as membrane). This difference, for example, can use strange cells to pull electrical signals. That's how they are in communication.
Large amounts of energy
When the potassium potatoium sodium works, it uses a quarter of the body's powder, the ATP molecules called it.
In fact, in the brain, nearly 70 per cent of the fuel provided is maintained; run pumping.
Well: Aarhus University
Example: When you put your hand on the hob, the cells in the hand will use the fluid difference to signal the brain to remove the axes at a wild distance.
When the pump is for some reason, the vapor can disappear.
For example, when it occurs in the # 39; sodium potassium button in the habitats – the alpha form 1 – it may mean that the magnesium fragments can not be taken. It does not matter what the vitamin pipe arrangements and pills you are taking.
– In these three children, an error code has occurred in the potatoium pot of sodium in the habitats. One person may receive the same disease in other ways, but in the case; these children, the disaster has occurred in the same protein, according to Claus Juul Eoghain.
Danish researchers have added experience
The new disease was found through an international consortium of researchers from Germany, England, Austria, Holland and Canada and Denmark Bente Vilsen with researcher Rikke Holm.
A group from the University of Aarhus has added to the knowledge of the " Solar potassium sodium pumps are investigated by the introduction of gene genera – that is, the DNA mutated – in cultural cells originated from mergers. This allowed them to measure the amount of pump five in detail in the laboratory.
Therefore, they could show that pigs made the pumps unable to carry sodium and potassium.
An amazing influence had changed
In addition to the lack of magnesium in the sound, the three children who had epileptic attacks were regular and bad.
Epilepsy is an unusual disease, which means that it is a disease; coming from the brain and the strange system.
Bente Vilsen is of the opinion that it is particularly interesting that the problems arose in an alpha 1 pump.
Previously, the researchers put another type of the pump, the most important alpha 3 method.
– & It may not have been so unexpected that the habitats were in place. But it was weird that this pump is important to the brain, and the definition of Vilsen.
Pump is important to everyone
The sodium potassium pump is available in four different formats, with the three children having problems with one, alpha 1.
The pump is important
If the potassium potatoium sodium is very bad in our brain cells, it can be caused by major diseases of patients, such as migration, spasma or paralysis.
It has been confirmed that there are effects in sodium potassium pot in the adrenal glands associated with high blood pressure in many people.
Source: Poul Nissen, University of Aarhus
It is not the first time that researchers have a & # 39; Obtaining patient diseases due to errors in the potassium potato essential ingredient, but this is a & # 39; The first time the problem comes from the alpha 1 form.
In the ugly cells of the brain, alpha 1 form is found alongside the alpha 3 form.
– The interesting thing is that we know diseases such as in the brain for a number of years, but before it did not think that alpha was at any point 1. Now, we can see that Alpha 1 is also defective to & # 39; hitting the brain, and # 39; explains Vilsen.
– It shows that the sodium potassium pump is important to everyone, she says.
Finding can be important
Changes in the genome can occur for many purposes and at different times in life, and it is difficult to identify where it has gone wrong.
The three children may have been able to get their & # 39; Mòd at different stages of life or maybe at birth. It is impossible to say.
Therefore, scientists do not know why some children develop their secret disease.
There are a variety of magnesium levels, among other things, which include tiredness, muscle weakness and its; grow smaller, but it can also cause religions, crimes and mental disorders.
The researchers can not translate it to address any handling. But it can be important in the long term, says Bente Vilsen.
– This is the first step on the way. It's important to find out what kind of genre is wrong, she says.
Easier to recognize the disease
In addition, it is easier for other doctors to recognize the disease when they face some of the same symptoms, Professor Karin Lykke-Hartmann said. She also works at the Biomedicine Department at Aarhus University, but with animal models and in another group of Bente Vilsen.
– Half years after the identification of a new disease, it will be converted into more patients with the same symptoms. We will be familiar with this in & # 39; Our group, Lykke-Hartmann says.
– It will be helpful to find a gene that is responsible if you have a rare disease. Then medicine can be further developed, she says.
Lykke-Hartmann has also read the study and he thinks it's really interesting. She also works with potassium sodium infections. The technology has improved considerably in recent years, saying.
– It's beautiful
According to Claus Juulland, it's only more common to identify infections by analyzing the genetic material, as researchers have done in the new study. Just just because the technology is cheaper and easier to use.
– But very few diseases are caused by a single variety. It's really interesting when researchers find a molecular definition for something that was clinically looked, he says.
– It's beautiful when it is possible.
Bente Vilsen says that their understanding of rare diseases often leads to better treatment of patients with related diseases but more common.
– Research is so simple that is the basis for the development of most drugs and healing, finished.
K. Schlingmann et al: «Germline De Novo Mutations in ATP1A1 Hypomagnesemia Causation Cause, Heating Holdings, and Strategic Disability», Journal of American Genetics (2018), DOI: 10.1016 Summary
© Videnskab.dk. Translated by Lars Nygaard for forskning.no.