Open AccessSpecific biomarkers for C9orf72 FTD / ALS could expedite the journey towards effective therapies
Author(s) -
Balendra Rubika,
Moens Thomas G,
Isaacs Adrian M
Publication year - 2017
Publication title -
embo molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.923
H-Index - 107
eISSN - 1757-4684
pISSN - 1757-4676
DOI - 10.15252/emmm.201707848
Subject(s) - c9orf72 , trinucleotide repeat expansion , frontotemporal dementia , computational biology , gene , biology , genetics , medicine , allele , disease , dementia
A hexanucleotide repeat expansion in the C9orf72 gene is a common genetic cause of ALS and FTD . The repeats are translated into five different dipeptide repeat proteins ( DPR s). In this issue, Lehmer et al (2017) demonstrate that one of these DPR s, poly( GP ), can be measured in the CSF of individuals with C9orf72 mutations. In conjunction with the findings from another recent study (Gendron et al , 2017), these DPR biomarkers may prove to be extremely valuable in the quest for effective therapies for C9 FTD / ALS .