Important Role of Nucleo-Cytoplasmic Transport in ALS & Frontotemporal Dementia

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two devastating adult-onset neurodegenerative disorders. No cure exists now for these diseases. Ten percent of ALS patients suffer from a familial form of the disease, while FTD is caused, in 40% of patients, by a genetic defect. In 2011, the most important genetic cause of ALS and FTD was discovered. The causative mutation was a repetition of a piece of non-coding DNA, a so-called tandem repeat, in a gene (C9orf72) with an unknown function. A team of scientists from the Vesalius Research Center and the University of Leuven (VIB/KU Leuven) in Belgium have now discovered that proteins translated from this tandem repeat interfere with the nucleo-cytoplasmic transport and they have found that this interference is essential for causing ALS and FTD. The findings are described in a new article published online on February 12, 2016 in Scientific Reports. The open-access article is titled “Drosophila Screen Connects Nuclear Transport Genes to DPR Pathology in c9ALS/FTD.” An earlier paper by the group and published in Nature Neuroscience also bore on the subject of nucleo-cytoplasmic transport in ALS and FTD. Professor Ludo Van Den Bosch (VIB/KU Leuven): “This is the first time that we see a role for nucleocytoplasmic transport for these specific forms of ALS and FTD. Moreover, these insights have a solid basis, because they come from four different scientific angles. It is an important next step in our understanding of these terrible diseases.” In ALS, motor neurons in the motor cortex, brainstem, and spinal cord are affected, while in FTD, cortical neurons in the frontotemporal cortex of the brain degenerate. Patients can have a clinical presentation that is predominantly motor (ALS), predominantly frontotemporal (FTD), or a mixture of both (ALS-FTD).
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