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Publication

Genetic factors determining vulnerability of neurons involved in motor control

Book - Dissertation

Motor neuron diseases are a group of disorders in which degeneration of the motor system occurs, which results in progressive muscle weakness. Amyotrophic lateral sclerosis (ALS) is the best known example of a motor neuron disease. Others are hereditary spastic paraplegias, spinocerebellar ataxias and inherited peripheral neuropathies. They differ at a clinical level and as to which part of the motor system they predominantly affect. However in all of them the motor system is progressively damaged, no cure exists and there is a genetic origin. Our project aims to gain new insights into the underlying pathogenic mechanisms of motor neuron diseases since this will be essential for the development of new therapies. Because of the important genetic basis, we hypothesize that the (overlap in) genetic features will provide more insight about the underlying mechanisms and about the vulnerability of (the different parts of) the motor system. By using DNA sequencing technologies, we will look for known pathogenic mutations in a large cohort of patients. We will establish correlations between genetic and clinical information and identify mutations that can cause more than one of the phenotypes studied. We will also try to identify novel disease-causing mutations. Finally, we will use all these data to perform bio-informatics modelling to map the genetic vulnerability of the motor system, to establish genetic interactions and assess the influence of mutations on protein function.
Publication year:2022
Accessibility:Open