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  Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization

Shoichet, S. A., Waibel, S., Endruhn, S., Sperfeld, A. D., Vorwerk, B., Mümlller, I., et al. (2009). Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotrophic Lateral Sclerosis, 10(3), 162-169. doi:10.1080/17482960802535001.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D7A-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D7B-3
Genre: Journal Article
Alternative Title : Amyotroph Lateral Scler

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829582_758077663_905073240.pdf (Any fulltext), 383KB
 
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 Creators:
Shoichet, Sarah A, Author
Waibel, Stefan, Author
Endruhn, Sonja, Author
Sperfeld, Anne D., Author
Vorwerk, Brita1, Author              
Mümlller, Ines2, Author
Erdogan, Fikret3, Author              
Ludolph, Albert C., Author
Ropers, Hans-Hilger3, Author              
Ullmann, Reinhard4, Author              
Affiliations:
1Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433554              
2Max Planck Society, ou_persistent13              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
4Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Free keywords: Amyotrophic lateral sclerosis; ALS; motor neuron disease; genetics; whole genome search; array CGHIntroduction
 Abstract: Amyotrophic lateral sclerosis (ALS) is a devastating disorder of the central nervous system that leads to progressive loss of upper and lower motor neurons. Most cases are sporadic and of unknown aetiology. In this study, we screened 72 patients with sporadic ALS for the presence of DNA copy number variations, in order to identify novel candidate disease genes. We have used sub-megabase resolution BAC array comparative genomic hybridization to detect genomic imbalances in our ALS patient cohort. Aberrations with potential relevance for disease aetiology were verified by oligo array CGH. In 72 patients with sporadic ALS, we identified a total of six duplications and five deletions that scored above our threshold. Nine of these 11 variations were smaller than 1Mb, and five were observed exclusively in ALS patients. In conclusion, non-polymorphic sub-microscopic duplications and deletions observable by array CGH are frequent in patients with sporadic ALS. Analysis of such aberrations serves as a starting point in deciphering the aetiology of this complex disease, given that affected genes can be considered candidates for influencing disease susceptibility.

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Language(s): eng - English
 Dates: 2009-06
 Publication Status: Published in print
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Title: Amyotrophic Lateral Sclerosis
  Alternative Title : Amyotroph Lateral Scler
Source Genre: Journal
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Pages: - Volume / Issue: 10 (3) Sequence Number: - Start / End Page: 162 - 169 Identifier: -