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
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author Balendra, Rubika
Moens, Thomas G
Isaacs, Adrian M
author_facet Balendra, Rubika
Moens, Thomas G
Isaacs, Adrian M
author_sort Balendra, Rubika
collection PubMed
description 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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spelling pubmed-55244292017-07-26 Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies Balendra, Rubika Moens, Thomas G Isaacs, Adrian M EMBO Mol Med News & Views 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. John Wiley and Sons Inc. 2017-05-22 2017-07 /pmc/articles/PMC5524429/ /pubmed/28533210 http://dx.doi.org/10.15252/emmm.201707848 Text en © 2017 The Authors. Published under the terms of the CC BY 4.0 license This is an open access article under the terms of the Creative Commons Attribution 4.0 (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle News & Views
Balendra, Rubika
Moens, Thomas G
Isaacs, Adrian M
Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
title Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
title_full Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
title_fullStr Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
title_full_unstemmed Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
title_short Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
title_sort specific biomarkers for c9orf72 ftd/als could expedite the journey towards effective therapies
topic News & Views
url 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
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