Minority diseases are those that affect less than 5 people per 10,000 inhabitants and the latest today, 28 February, marks its international day promoted by the European Organisation for Rare Diseases (EURORDIS).
The Molecular Physiology Group of the Synapses of the Hospital de la Santa Creu i Sant Pau (IIB Sant Pau), led by the researcher Alex Bayés, is one of the four research groups in the world that studies the Syngap1 gene, the origin of a minority disease that causes intellectual disability and epilepsy in all those affected, as well as autistic symptoms and motor difficulties in more than half of the cases.
Researcher Gemma Gou, from the same group as the IIB Sant Pau, has been developing her thesis on the effects of the mutation in the Syngap1 gene, responsible for the aforementioned symptoms, for six years.
It is estimated that mutations in the Syngap1 gene could be the cause of up to 1% of all cases of intellectual disability in the world.
The function of the Syngap1 gene is to generate a homonymous protein that is indispensable for producing communication between neurons. The gene is common in humans and mice, therefore experimentation with the latter is essential to better understand the mechanisms of functioning of this protein.
Gemma Gou’s thesis is based on the knowledge that the mutation of the Syngap1 gene alters the normal development of the human brain producing interferences that will later make learning impossible (intellectual disability) and, in many cases, will trigger autistic symptoms, such as lack of verbal communication or repetitive and sterotypical behaviour.
The vast majority of people affected by this cognitive disorder also have epilepsy, which in about half of cases is resistant to the most common drug treatments. Other symptoms of Syngap1 deficiency include muscle hypotonia, delays in intellectual and motor development, or disturbances in sleep and behavior.
It is estimated that this mutation would have a prevalence of 1 case per 80,000 births. This means that in Catalonia alone there could be up to 100 cases and in more than 500 in the whole State, but, at the moment, only 9 cases have been identified in Spain, two of them in Catalonia.
European Organisation for Rare Diseases (Eurordis)
In this link you will find a report published in El Mundo about this genetic mutation.
