Sunday, December 4, 2011

ALS/FTD Major New Gene Discovery

The gene , called chromosome 9 open reading frame 72 (C9ORF72), contributes to 40% of familial (inherited) and 7-10% of sporadic (non-inherited) ALS and is linked to a seemingly unrelated neurodegenerative disorder (but known to be associated with ALS) Frontotemporal Degeneration (dementia).The function of the gene is as yet unknown. This mutant gene causes a toxic build-up of RNA .
C9ORF72 can be traced back to a "founder" person in Scandinavia 1500 years ago! This discovery prompts investigators to question whether there is actually a "sporadic" form of ALS, given that careful investigation of such patients may in fact reveal a relative with FTD.
NEURON 2011; E-pub Sept 21 2011

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