A study will accurately identify genes involved in rare diseases affecting motoneuron


Current knowledge about hereditary spastic paraparesis and other disorders affecting motor neurons suggests that degeneration of nerve cells is the end result of the alteration of different processes, such as the composition of myelin, the growth of neurons and adhesion and cell signaling, among others. In order to ascertain the common pathways affecting motor neurodegeneration, the Bellvitge University Hospital and the IDIBELL have launched a multicentre study.

The project aims to metabolic and functional idnetification and characterization of new sequence variants and the identification of new genes involved in rare diseases that affect motor neuron. “What we want is to find the exact genes that are involved in motor neurodegeneration, ie, the ones that when they are altered don’t produce the proteins responsible for operating the muscles,” says Carles Casasnovas, study coordinator, practitioner Service Specialist of Neurology, University Hospital of Bellvitge and researcher at the Neurological Diseases and Neurogenetics

group at IDIBELL. Thus, it is expected to improve the diagnosis of these diseases and thus develop new drugs and therapeutic methods to be more effective in treating those affected.

The study focuses on the familial spastic paraparesis, a group of inherited disorders characterized by progressive stiffness and contraction (spasticity) of the muscles due to dysfunction of the nerves. “Studying a group of inherited motor neuron diseases lets us know with the utmost precision the affected genes, since these must match all sick relatives, but, instead, should not be in the healthy members,” explains Casasnovas. The results not only serve for this group of diseases, but will have impact on all those rare diseases that affect the upper motor neuron, such as Amyotrophic Lateral Sclerosis (ALS).

“We’ve found the first candidate genes for use in animal models and test whether these are causing motor neurodegeneration” says the researcher. To do this, they are applying high-throughput metabolomics, methodologies next generation sequencing and bioinformatic analysis tools integrative systems biology to analyze genes. Test will be conducted in vitro by molecular biology and biochemical tests and in vivo by the generation and functional characterization of mutants in the zebra fish model.

The project called Biomedicine systems to unravel the molecular basis and model corticospinal motor neuron diseases has received support from the Ministry of Health, Foundation La Marató TV3 and the CIBERER (National Research Network on Rare Diseases). Led by Carles Casanovas, in the study collaborates the University Hospital of Bellvitge, the Neurometabolic Diseases research group at IDIBELL, the Galician Foundation of Genomic Medicine, University Pompeu Fabra, and the Institute of Biomedical Research of Lleida.

Scroll to Top