Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies

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 (DPRs). In this issue, Lehmer et al (2017) demonstrate that one of these DPRs, poly(GP), can be measured in the CSF of individuals...

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Detalles Bibliográficos
Autores principales: Balendra, Rubika, Moens, Thomas G, Isaacs, Adrian M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
News & Views
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524429/
https://www.ncbi.nlm.nih.gov/pubmed/28533210
http://dx.doi.org/10.15252/emmm.201707848
Descripción
Sumario: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 (DPRs). In this issue, Lehmer et al (2017) demonstrate that one of these DPRs, 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 C9FTD/ALS.

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