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The role of de novo...
The role of de novo mutations in the development of amyotrophic lateral sclerosis
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van Doormaal, Perry T. C. (author)
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Ticozzi, Nicola (author)
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Weishaupt, Jochen H. (author)
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Kenna, Kevin (author)
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Diekstra, Frank P. (author)
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Verde, Federico (author)
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- Andersen, Peter M. (author)
- Umeå universitet,Klinisk neurovetenskap
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Dekker, Annelot M. (author)
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Tiloca, Cinzia (author)
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Marroquin, Nicolai (author)
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Overste, Daniel J. (author)
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Pensato, Viviana (author)
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Nuernberg, Peter (author)
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Pulit, Sara L. (author)
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Schellevis, Raymond D. (author)
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Calini, Daniela (author)
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Altmueller, Janine (author)
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Francioli, Laurent C. (author)
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Muller, Bernard (author)
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Castellotti, Barbara (author)
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Motameny, Susanne (author)
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Ratti, Antonia (author)
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Wolf, Joachim (author)
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Gellera, Cinzia (author)
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Ludolph, Albert C. (author)
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van den Berg, Leonard H. (author)
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Kubisch, Christian (author)
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Landers, John E. (author)
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Veldink, Jan H. (author)
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Silani, Vincenzo (author)
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Volk, Alexander E. (author)
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(creator_code:org_t)
- 2017-08-03
- 2017
- English.
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In: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 38:11, s. 1534-1541
- Related links:
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https://europepmc.or...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis; however, results were conflicting: no genes with recurrent occurring de novo mutations were identified and different pathways were postulated. In this study, we analyzed whole-exome data from 82 new patient-parents trios and combined it with the datasets of all previously published ALS trios (173 trios in total). The per patient de novo rate was not higher than expected based on the general population (P = 0.40). We showed that these mutations are not part of the previously postulated pathways, and gene-gene interaction analysis found no enrichment of interacting genes in this group (P = 0.57). Also, we were able to show that the de novo mutations in ALS patients are located in genes already prone for de novo mutations (P < 1 x 10(-15)). Although the individual effect of rare de novo mutations in specific genes could not be assessed, our results indicate that, in contrast to previous hypothesis, de novo mutations in general do not impose a major burden on ALS risk.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- ALS
- amyotrophic lateral sclerosis
- de novo mutations
- disease pathway
- motor neuron disease
- trios
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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van Doormaal, Pe ...
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Ticozzi, Nicola
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Weishaupt, Joche ...
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Kenna, Kevin
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Diekstra, Frank ...
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Verde, Federico
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show more...
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Andersen, Peter ...
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Dekker, Annelot ...
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Tiloca, Cinzia
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Marroquin, Nicol ...
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Overste, Daniel ...
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Pensato, Viviana
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Nuernberg, Peter
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Pulit, Sara L.
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Schellevis, Raym ...
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Calini, Daniela
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Altmueller, Jani ...
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Francioli, Laure ...
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Muller, Bernard
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Castellotti, Bar ...
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Motameny, Susann ...
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Ratti, Antonia
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Wolf, Joachim
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Gellera, Cinzia
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Ludolph, Albert ...
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van den Berg, Le ...
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Kubisch, Christi ...
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Landers, John E.
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Veldink, Jan H.
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Silani, Vincenzo
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Volk, Alexander ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Mutation
- By the university
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Umeå University