2012-08-14 14:15:53
Mice with a gene deleted develop autistic behavior
I believe that there are few misfortunes greater than suffering from a defect in intelligence and social behavior. One of those misfortunes is being born autistic.
Autism is a neuronal development disease that manifests itself in childhood and is characterized, above all, by poor social interaction and a decreased ability to communicate with others, which does not necessarily imply language acquisition problems. Research on autism has made it clear that this condition is caused by a malfunction of the connections between neurons, that is, the so-called synapses. Curiously, in autism a poor functioning of neural communication translates into a poor functioning of social communication.
In addition to autism, two other related syndromes have also been identified: Asperger syndrome, in which there are clear language acquisition problems, and a so-called “unspecified developmental disorder,” which is diagnosed when the criteria are not met. diagnostic criteria for autism or Asperger syndrome. That is to say, this unspecified syndrome is a kind of catch-all in which all those patients who show symptoms of autism are classified, without it being possible to say with certainty that they are autistic.
PIECES AND SYNAPSES
Recent studies have revealed that the cause of autism is genetic. Several genes seem to be involved in its development, and, for this reason, the genetics of autism is not simple, since the parents of autistic children are not necessarily autistic themselves. This initially led to speculation about the possibility that autism, like cancer, was caused by mutations that appeared “de novo”, that is, induced by external agents, such as pollution, pesticides, etc. However, it is not yet clear whether these factors contribute to the development of autism.
In any case, diseases caused by faults in genes are the most difficult to cure, and most are, in fact, incurable. One of them is autism. A defect in a gene can cause the production of a defective protein, which does not fit properly with the rest of the pieces that participate in a specific biological mechanism. The functioning of synapses is one of those mechanisms, which depends, of course, on the multiple pieces that make it work doing so correctly. Many of these pieces are proteins produced by the action of genes. If one produces a defective part, it is possible that at least some of the synapses will not work well.
If this happens, what can we do to fix it?
It could happen that some new drug helps improve the functioning of the synapses and compensates for the defect caused by the gene mutation. However, it is difficult to find such a drug if you cannot research as easily as possible to try to find one that works. Research with human beings is, in general, difficult, slow and sometimes raises serious ethical problems. It is much easier to research with animals. For this reason, attempts are often made to generate, through genetic manipulation, breeds of laboratory animals that show diseases similar to those of humans. These animals can be used to experiment with new drugs and therapeutic strategies that could cure their disease… and also the human one.
MICE AND DRUGS
Precisely, the identification of some genes that participate in the development of autism now makes it possible to generate animals defective in these genes to check if they behave in a similar way to autistic people. To do this, of course, we need social laboratory animals. Flies and worms are of no use to us, although some humans resemble them so much.
Fortunately, the mouse is a very social and communicative animal, although this revelation may surprise many. Fortunately, current technology makes it possible to generate new breeds of designer mice for research, with genes of choice mutated or deleted.
Based on recent data on the genetics of autism in humans, Korean researchers have generated a strain of mice mutant in a gene called Shank2. This gene is believed to participate in the proper organization of the molecular structure of synapses and it has been proven that some autism patients have it mutated. Well, the mutant mice in this gene behave, in effect, like autistic people, in the sense that they show very reduced social interaction.
This new breed of autistic mice has been used to study the functioning of their neurons and synapses at a molecular level, which is very difficult to do in patients, since we would need to extract biopsies from their brains, an organ that, if television were not mediated , we don’t like being manipulated. These studies have made it possible to discover that a neurotransmitter does not function properly in these rodents and that the administration of drugs that enhance said neurotransmitter greatly improves the sociability of these animals. These results have been published in the journal Nature.
A new hope is now born for autistic patients. It is possible that clinical trials could show that the drug that improves autism in mice also improves it in humans. Who knows? Maybe autism will be cured before cuts leave global scientific research in a Brazilian thong.
WORKS BY JORGE LABORDA.
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