C9orf72

Publication Title: 
Experimental Neurology

A hexanucleotide repeat expansion residing within the C9ORF72 gene represents the most common known cause of amyotrophic lateral sclerosis (ALS) and places the disease among a growing family of repeat expansion disorders. The presence of RNA foci, repeat-associated translation products, and sequestration of RNA binding proteins suggests that toxic RNA gain-of-function contributes to pathology while C9ORF72 haploinsufficiency may be an additional pathological factor.

Author(s): 
Zeier, Zane
Esanov, Rustam
Belle, Kinsley C.
Volmar, Claude-Henry
Johnstone, Andrea L.
Halley, Paul
DeRosa, Brooke A.
Khoury, Nathalie
van Blitterswijk, Marka
Rademakers, Rosa
Albert, Jeffrey
Brothers, Shaun P.
Wuu, Joanne
Dykxhoorn, Derek M.
Benatar, Michael
Wahlestedt, Claes
Publication Title: 
Experimental Neurology

Among several genetic mutations known to cause amyotrophic lateral sclerosis (ALS), a hexanucleotide repeat expansion in the C9orf72 gene is the most common. In approximately 30% of C9orf72-ALS cases, 5-methylcytosine (5mC) levels within the C9orf72 promoter are increased, resulting in a modestly attenuated phenotype. The developmental timing of C9orf72 promoter hypermethylation and the reason why it occurs in only a subset of patients remain unknown.

Author(s): 
Esanov, Rustam
Belle, Kinsley C.
van Blitterswijk, Marka
Belzil, Veronique V.
Rademakers, Rosa
Dickson, Dennis W.
Petrucelli, Leonard
Boylan, Kevin B.
Dykxhoorn, Derek M.
Wuu, Joanne
Benatar, Michael
Wahlestedt, Claes
Zeier, Zane
Subscribe to RSS - C9orf72