Prof. 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.
Prof. Wim Robberecht (VIB / KU Leuven): «Recently, two other papers were published in Nature using fruit flies containing C9orf72 repeats, yielding both toxic repeat RNA and toxic DPRs and these also concluded that
defective nucleocytoplasmic transport is important in C9orf72 ALS and / or FTD.
These components are the mitochondria (derived from purple bacteria), the plastids (from cyanobacteria), and
the nucleocytoplasmic component (from archaebacteria).
«
The nucleocytoplasmic component of the eukaryotic cell branches off very early in the evolutionary radiation of the archaebacteria.
A team of scientists from VIB and KU Leuven now discovered that proteins translated from this tandem repeat interfere with
the nucleocytoplasmic transport which they found is essential for causing ALS and FTD.
Bioinformatic analyses suggest that glycine - arginine and proline - arginine repeats could mimic the nuclear localization signals of these proteins and hence hijack nuclear import by overloading
the nucleocytoplasmic transport system.