Although the genomic studies developed in recent years have made it possible to discover a greater number of genes associated with the development of amyotrophic lateral sclerosis (ALS)science has not yet been able to establish what causes it in most cases. Hence, the importance of enhance genetic testingregardless of the origin of the disease: sporadic ALS –without a family history– or familial –with a history in first or second degree blood relatives–.
“In recent years, We have sequenced the DNA of patients with familial ALS in Gran Canaria and Tenerife. Now, together with the Neurology services of the hospitals, we hope to be able to study all those affected in the future and give them the opportunity to access specific clinical trials“, Explain Abraham Acevedo, researcher in the Research unit of the Canary Islands University Hospital (HUC) and one of the participants in the II ALS conferencea reality where time counts, which were held last Wednesday at the Hotel Escuela in Santa Cruz de Tenerife.
Although the conclusions they have obtained so far are very preliminary, professionals have found mutations in a small group of sufferers. «What all those affected have in common are the clinical symptoms produced by the death of motor neurons. Now, we are faced with a complex pathology that is governed by mechanisms that do not have to be the same in all cases. That’s why, Stratifying patients from a genetic point of view is the first step that must be taken to understand each patient’s condition.», details the expert.
But, How can molecular mechanisms be identified? As Acevedo indicates, first of all you have to obtain a DNA sample from the patient through blood or saliva. Subsequently, the genetic material is sequenced in the laboratory. “In our case, we sequenced the entire exome, which is the region that codes for protein production,” he notes.
The mechanisms by which the disease is governed are not the same in all cases.
Extrapolating this activity to all those affected not only offers patients the opportunity to access new treatmentswill also allow specialists to better understand the disease behavior and that the Genetic Council units can better identify those relatives who, despite not having developed the disease, carry mutations.
“Right now, There are no active clinical trials for these patients in the Archipelago, but in the rest of the country and abroad, yes. Without a doubt, clinical research in ALS is in a phase of full development and there is optimism regarding management and control,” says the researcher, who also reports that the two large hospitals in Tenerife are trying to obtain financing to enhance genetic analyses.
The importance of these tests was one of the main issues that was put on the table within the framework of the conference held last Wednesday. In fact, during the appointment, the doctor Mónica Povedano, head of the functional unit of Motor Neurone Disease of the Neurology service of the Bellvitge University Hospital of Barcelona, transferred the experience of her work center in this field. “There they perform genetic analyzes on all patients and collect imaging tests and blood and DNA samples to maintain a biobank that researchers can access,” highlights the HUC professional.
To continue expanding our knowledge of molecular behavior, Scientists at the laboratory of the aforementioned Canarian hospital continue to investigate the pathology using animal and cellular models.. “Our daily work is focused on studying the molecular mechanisms of the disease in animal models, especially in mice, which we generate and which we use to try to learn about them,” he comments.
ALS is a neurodegenerative pathology –the third most common after Alzheimer’s and Parkinson’s– which affects the central nervous system and causes deterioration of motor neurons. It can debut in two different ways. One of them is the so-called Spinal onset ALS, which damages the extremities. The other is known as Bulbar onset ALS and causes difficulties when performing functions such as breathing, swallowing or speaking. However, as the condition progresses, it is common for the two types to mix.
Considering the origin of the disease, it must be said that Familial ALS only affects 10% of diagnosed patients. Based on studies, mutations in the SOD1 gene are responsible for 20% of cases in which the pathology manifests itself through familial inheritance and for 3% of sporadic ALS cases.
