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Project

The role of FUS in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder characterized by the selective death of motor neurons. This progressive motor neuron loss results in muscle weakness, paralysis and ultimately death of the patient, usually within 5 years after the diagnosis. While no familial history is present in the majority of ALS patients, 10 % suffer from a familial variant of the disease (FALS). By far the most studied genetic cause of FALS are mutations in the gene encoding superoxide dismutase 1 (SOD1), causing ALS in 10- 20 % of FALS. Although  hese studies have greatly expanded our knowledge, the exact pathogenic mechanism remains unknown. Recently, disease causing mutations have been identified in a new gene called FUS. The aim of this research project is to unravel the pathogenic mechanism(s) involved in motor neuron death induced by these mutations. Therefore, we will create different transgenic animal models that will allow us to study how FUS mutations cause motor neuron death. We will investigate which cell types and which molecular pathway(s) are crucially involved in the disease causing mechanism. Ultimately this research can lead to the identification of potential therapeutic targets.

 

Date:1 Oct 2010 →  30 Sep 2017
Keywords:Amyotrophic lateral sclerosis
Disciplines:Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing