The leader of the project is João Peça who is a professor at the UC in the Faculty of Sciences and Technology and in the team there are also scientists from Germany, Belgium and Switzerland investigating the brain cells that may have the biggest activity in people with autism.
In a communiqué released by UC, the investigation will focus on the gene SHANK3 that, according to João Peça is “one of the most commonly diagnosed causes for autism”, however the investigation will also focus on “the consequences of the gene mutation.” During the three years of investigation, the team will aim to understand which brain cells can cause autism, as well as make a deeper investigation regarding the consequences of the mutations in the SHANK3 gene in people with autism.
According to Medline Plus, the gene SHANK3 instructs the body to create a certain protein that is more abundant in the brain and plays a role in the functioning of the synapses, which connects nerve cells, helping in the communication between brain cells, ensuring that all the information sent by a neuron is received by another. During all this natural process the astrocytes are the most important feature of the brain.
João Peça mentions that when the astrocytes are neglected, they “may also play a major role in the autism development.” The professor adds that recently astrocytes were identified as a key in the formation of a neuronal circuit. Thus, the “dysfunction of the astrocytes, caused by the gene SHANK 3 mutation, may lead to problems regarding the formation and maturation of the neuronal circuit”, which may cause behavioural and cognitive comorbidities.
During the investigation, new methods will be used, including genetically modified rats as well as organoids that recreate the human brain cells. The investigation team members are all specialists in the gene SHANK3 and astrocytes’ biology field.
João Peça says that if the impact of SHANK3 mutations in autism, it will be possible to find and make “therapies for diseases concerning neuronal development.”
According to Médis website, in Portugal 1 in every 1,000 children, of school age, has autism, being most predominant in male children. Currently, the diagnosis is based on the criteria defined by the American Association of Psychiatry and tests are made in many fields, such as language, speaking or in the analysis of social behaviours.
Autism does not have a cure, but nowadays, there are safe methods to give to autist people a better quality of life. Besides working on autonomy, people with autism may also need family or institutional support, even during adulthood.