Talk about autism In general, this is not easy because it is not really a single condition. In fact, many years ago we stopped talking about autism refer to autism spectrum disorder (ASD). This includes a set of conditions that have some common factors but also many differences. Therefore, since there is no exact definition, finding the origin is also very difficult. Several years ago, it was discovered that most ASD patients have a specific protein modification called CPEB4what influenced 24 letters of DNA that encode it. But it was not known what the consequences were and how they could be solved. This of course makes it impossible to search autism treatment.
Now an international team of researchers led by Spaniards Raul Mendez and Xavier Salvatellahas taken another step toward a possible cure for autism. It is important to note that its results are in very early stage and that we cannot throw bells into the air. However, every step is important, and this is no exception.
In preliminary laboratory studies, these scientists found that enter 8 amino acids in the body that reverse this small failure of the CPEB4 protein. If the same thing happened to humans, it would be great news, but there is still a long way to go to find out. For now, let’s look at some basic biochemistry to understand why this discovery is so important.
Keys to the genetic code
All our cells need a number of operating instructions. The instructions they use for this are DNA. Here are the keys to all that we are and all that we can do. To accomplish all this, you need squirrels. They are the ones who perform all these functions in our body. They are synthesized in organelles called ribosomesbut there is a problem: ribosomes cannot read DNA. It is as if we gave instructions for operating a machine to the operator who is using it, and it was in a language that the operator does not understand. It is important to translate it into your language so that you can read it. This is done by transcribing the DNA contents into RNA. Ribosomes can read RNA, so they can begin to create amino acids, these are the little building blocks that make up proteins.
Thus, DNA is transcribed into RNA, it is transmitted to ribosomes and they, reading information from RNA, begin to produce amino acids, which, when assembled, form the proteins necessary for our body. It is often mistakenly said about genetic code refer to those instructions hidden in the DNA, but in reality they are not. The genetic code is a kind of template that links sets of three letters of RNA to a specific amino acid. For example, valine consists of, among other things, the letters GUA (there are several sets of three letters for one amino acid), and arginine consists of, among other things, the letters CGA.
Why is the CPEB4 protein important for treating autism?
Since a 2018 study, it is known that the CPEB4 protein of many people with ASD is missing a fragment of 24 letters, namely: GCAAGGACATATGGGCGAAGGAGA.
We already know that every three letters make up an amino acid. Therefore, 24 letters correspond 8 amino acids (24/3). In this new study, the authors wanted to test, on the one hand, what the effect of the absence of these 8 amino acids is, and on the other, what happens if they are given to patients. Will this be a cure for autism?
They first conducted a study with genetically modified mice the absence of this fragment. So they saw that when many proteins had this error, regulation of 200 genes. All are involved in some type of autism spectrum disorder. Thus, this explains why one mistake causes such a wide range of symptoms.
What do we mean by regulation?
We have already seen that DNA is the instructions for our cells. But not all cells need all instructions. The book is the same for everyone, but everyone reads what he needs. For example, instructions for the synthesis of insulin are found in the cells of the eye, but they are not used because they are not needed. On the other hand, they are used in the cells of the pancreas, since it is the organ responsible for the synthesis of this hormone.
The use of one or another instruction is turned on or off as needed. This process of turning on or off is known as gene expression and is regulated by many factors. For example, there may be proteins responsible for its regulation, as is the case with CPEB4.
What is the treatment for autism?
Once this was discovered, the scientists checked which 8 amino acids corresponded to the missing DNA fragment. We have already seen that ribosomes cannot read DNA, so we transcribed the sequence of letters that corresponded to DNA into RNA and then, looking at the genetic code, checked which amino acids it corresponded to.
Next, an experiment was carried out with laboratory-grown proteins consisting of add these 8 amino acids. We’ve already seen that amino acids are the little building blocks that make up proteins, so they will make protein rattan blocks for its restoration.
And so it was. The amino acids may not have gathered in the right place, but they did, so the protein restored its function.
This is all very preliminary. The experiment was carried out on purified laboratory proteins. Even in animals, since the mouse experiment was different. There is still a lot to overcome, but at least another step has been taken towards a cure for autism that has already been discovered. WITH caution, it never ceases to be interesting.
Source: Hiper Textual
