TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

<h4>Background</h4>TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to famil...

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Autores principales:	Rita J Guerreiro, Jennifer C Schymick, Cynthia Crews, Andrew Singleton, John Hardy, Bryan J Traynor
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2008
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/27099a73191a4f369aeb28c169b83464
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spelling	oai:doaj.org-article:27099a73191a4f369aeb28c169b834642021-11-25T06:12:03ZTDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.1932-620310.1371/journal.pone.0002450https://doaj.org/article/27099a73191a4f369aeb28c169b834642008-06-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18545701/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS.<h4>Methodology/principal findings</h4>To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 ALS cases and 806 neurologically normal control individuals of European descent were screened for sequence variants, copy number variants, genetic and haplotype association with disease. An additional 173 African samples from the Human Gene Diversity Panel were sequenced as this population had the highest likelihood of finding changes. No mutations were found in the ALS cases. Several genetic variants were identified in controls, which were considered as non-pathogenic changes. Furthermore, pathogenic structural variants were not observed in the cases and there was no genetic or haplotype association with disease status across the TARDBP locus.<h4>Conclusions</h4>Our data indicate that genetic variation in TARDBP is not a common cause of sporadic ALS in North American.Rita J GuerreiroJennifer C SchymickCynthia CrewsAndrew SingletonJohn HardyBryan J TraynorPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 3, Iss 6, p e2450 (2008)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Rita J Guerreiro Jennifer C Schymick Cynthia Crews Andrew Singleton John Hardy Bryan J Traynor TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
description	<h4>Background</h4>TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS.<h4>Methodology/principal findings</h4>To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 ALS cases and 806 neurologically normal control individuals of European descent were screened for sequence variants, copy number variants, genetic and haplotype association with disease. An additional 173 African samples from the Human Gene Diversity Panel were sequenced as this population had the highest likelihood of finding changes. No mutations were found in the ALS cases. Several genetic variants were identified in controls, which were considered as non-pathogenic changes. Furthermore, pathogenic structural variants were not observed in the cases and there was no genetic or haplotype association with disease status across the TARDBP locus.<h4>Conclusions</h4>Our data indicate that genetic variation in TARDBP is not a common cause of sporadic ALS in North American.
format	article
author	Rita J Guerreiro Jennifer C Schymick Cynthia Crews Andrew Singleton John Hardy Bryan J Traynor
author_facet	Rita J Guerreiro Jennifer C Schymick Cynthia Crews Andrew Singleton John Hardy Bryan J Traynor
author_sort	Rita J Guerreiro
title	TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
title_short	TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
title_full	TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
title_fullStr	TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
title_full_unstemmed	TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
title_sort	tdp-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
publisher	Public Library of Science (PLoS)
publishDate	2008
url	https://doaj.org/article/27099a73191a4f369aeb28c169b83464
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TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

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