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Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and ALS...

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Autores principales: van Blitterswijk, Marka, Vlam, Lotte, van Es, Michael A., van der Pol, W-Ludo, Hennekam, Eric A. M., Dooijes, Dennis, Schelhaas, Helenius J., van der Kooi, Anneke J., de Visser, Marianne, Veldink, Jan H., van den Berg, Leonard H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498376/
https://www.ncbi.nlm.nih.gov/pubmed/23155438
http://dx.doi.org/10.1371/journal.pone.0048983
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author van Blitterswijk, Marka
Vlam, Lotte
van Es, Michael A.
van der Pol, W-Ludo
Hennekam, Eric A. M.
Dooijes, Dennis
Schelhaas, Helenius J.
van der Kooi, Anneke J.
de Visser, Marianne
Veldink, Jan H.
van den Berg, Leonard H.
author_facet van Blitterswijk, Marka
Vlam, Lotte
van Es, Michael A.
van der Pol, W-Ludo
Hennekam, Eric A. M.
Dooijes, Dennis
Schelhaas, Helenius J.
van der Kooi, Anneke J.
de Visser, Marianne
Veldink, Jan H.
van den Berg, Leonard H.
author_sort van Blitterswijk, Marka
collection PubMed
description Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and ALS. A total of 261 patients with adult-onset sporadic PMA, patients with sporadic ALS, and control subjects of Dutch descent were obtained at national referral centers for neuromuscular diseases in The Netherlands. Sanger sequencing was used to screen these subjects for mutations in the coding regions of superoxide dismutase-1 (SOD1), angiogenin (ANG), fused in sarcoma/translated in liposarcoma (FUS/TLS), TAR DNA-binding protein 43 (TARDBP), and multivesicular body protein 2B (CHMP2B). In our cohort of PMA patients we identified two SOD1 mutations (p.D90A, p.I113T), one ANG mutation (p.K17I), one FUS/TLS mutation (p.R521H), one TARDBP mutation (p.N352S), and one novel CHMP2B mutation (p.R69Q). The mutation frequency of these genes was similar in sporadic PMA (2.7%) and ALS (2.0%) patients, and therefore, our findings demonstrate a genetic overlap between apparently sporadic PMA and ALS.
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spelling pubmed-34983762012-11-15 Genetic Overlap between Apparently Sporadic Motor Neuron Diseases van Blitterswijk, Marka Vlam, Lotte van Es, Michael A. van der Pol, W-Ludo Hennekam, Eric A. M. Dooijes, Dennis Schelhaas, Helenius J. van der Kooi, Anneke J. de Visser, Marianne Veldink, Jan H. van den Berg, Leonard H. PLoS One Research Article Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and ALS. A total of 261 patients with adult-onset sporadic PMA, patients with sporadic ALS, and control subjects of Dutch descent were obtained at national referral centers for neuromuscular diseases in The Netherlands. Sanger sequencing was used to screen these subjects for mutations in the coding regions of superoxide dismutase-1 (SOD1), angiogenin (ANG), fused in sarcoma/translated in liposarcoma (FUS/TLS), TAR DNA-binding protein 43 (TARDBP), and multivesicular body protein 2B (CHMP2B). In our cohort of PMA patients we identified two SOD1 mutations (p.D90A, p.I113T), one ANG mutation (p.K17I), one FUS/TLS mutation (p.R521H), one TARDBP mutation (p.N352S), and one novel CHMP2B mutation (p.R69Q). The mutation frequency of these genes was similar in sporadic PMA (2.7%) and ALS (2.0%) patients, and therefore, our findings demonstrate a genetic overlap between apparently sporadic PMA and ALS. Public Library of Science 2012-11-14 /pmc/articles/PMC3498376/ /pubmed/23155438 http://dx.doi.org/10.1371/journal.pone.0048983 Text en © 2012 van Blitterswijk et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
van Blitterswijk, Marka
Vlam, Lotte
van Es, Michael A.
van der Pol, W-Ludo
Hennekam, Eric A. M.
Dooijes, Dennis
Schelhaas, Helenius J.
van der Kooi, Anneke J.
de Visser, Marianne
Veldink, Jan H.
van den Berg, Leonard H.
Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
title Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
title_full Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
title_fullStr Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
title_full_unstemmed Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
title_short Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
title_sort genetic overlap between apparently sporadic motor neuron diseases
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498376/
https://www.ncbi.nlm.nih.gov/pubmed/23155438
http://dx.doi.org/10.1371/journal.pone.0048983
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