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Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.
MedLine Citation:
PMID:  23299920     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Spinal muscular atrophy (SMA) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (SMN1) deletion. Discordant cases of SMA suggest that there exist additional severity modifying factors, apart from the SMN2 gene copy number. Here we performed the first genome-wide methylation profiling of SMA patients and healthy individuals to study the association of DNA methylation status with the severity of the SMA phenotype. We identified strong significant differences in methylation level between SMA patients and healthy controls in CpG sites close to the genes CHML, ARHGAP22, CYTSB, CDK2AP1 and SLC23A2. Interestingly, the CHML and ARHGAP22 genes are associated with the activity of Rab and Rho GTPases, which are important regulators of vesicle formation, actin dynamics, axonogenesis, processes that could be critical for SMA development. We suggest that epigenetic modifications may influence the severity of SMA and that these novel genetic positions could prove to be valuable biomarkers for the understanding of SMA pathogenesis.European Journal of Human Genetics advance online publication, 9 January 2013; doi:10.1038/ejhg.2012.293.
Authors:
Galina Y Zheleznyakova; Sarah Voisin; Anton V Kiselev; Markus Sällman Almén; Miguel J Xavier; Marianna A Maretina; Lyudmila I Tishchenko; Robert Fredriksson; Vladislav S Baranov; Helgi B Schiöth
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-09
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  -     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
1] Faculty of Biology and Soil Science, Saint-Petersburg State University, Saint-Petersburg, Russia [2] Department of Neuroscience, Uppsala University, Uppsala, Sweden.
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