Digitala Vetenskapliga Arkivet

Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Methylation Levels of SLC23A2 and NCOR2 Genes Correlate with Spinal Muscular Atrophy Severity
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Functional Pharmacology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Functional Pharmacology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Functional Pharmacology.
Show others and affiliations
2015 (English)In: PLOS ONE, E-ISSN 1932-6203, Vol. 10, no 3, article id e0121964Article in journal (Refereed) Published
Abstract [en]

Spinal muscular atrophy (SMA) is a monogenic neurodegenerative disorder subdivided into four different types. Whole genome methylation analysis revealed 40 CpG sites associated with genes that are significantly differentially methylated between SMA patients and healthy individuals of the same age. To investigate the contribution of methylation changes to SMA severity, we compared the methylation level of found CpG sites, designed as "targets", as well as the nearest CpG sites in regulatory regions of ARHGAP22, CDK2AP1, CHML, NCOR2, SLC23A2 and RPL9 in three groups of SMA patients. Of notable interest, compared to type I SMA male patients, the methylation level of a target CpG site and one nearby CpG site belonging to the 5'UTR of SLC23A2 were significantly hypomethylated 19-22% in type III-IV patients. In contrast to type I SMA male patients, type III-IV patients demonstrated a 16% decrease in the methylation levels of a target CpG site, belonging to the 5'UTR of NCOR2. To conclude, this study validates the data of our previous study and confirms significant methylation changes in the SLC23A2 and NCOR2 regulatory regions correlates with SMA severity.

Place, publisher, year, edition, pages
2015. Vol. 10, no 3, article id e0121964
National Category
Pharmacology and Toxicology
Identifiers
URN: urn:nbn:se:uu:diva-252710DOI: 10.1371/journal.pone.0121964ISI: 000352134700142PubMedID: 25821969OAI: oai:DiVA.org:uu-252710DiVA, id: diva2:811562
Available from: 2015-05-12 Created: 2015-05-11 Last updated: 2021-06-14Bibliographically approved

Open Access in DiVA

fulltext(351 kB)388 downloads
File information
File name FULLTEXT01.pdfFile size 351 kBChecksum SHA-512
e4ed9c4ed0725e1595c7615d619f63113da48c58467676e0ab31db81812167933c09cc56f82b409b9e4d0bd7f473fafd38056527700abb94e72a384dd8189059
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Zheleznyakova, Galina YuNilsson, Emil K.Fredriksson, RobertSchiöth, Helgi B.
By organisation
Functional Pharmacology
In the same journal
PLOS ONE
Pharmacology and Toxicology

Search outside of DiVA

GoogleGoogle Scholar
Total: 388 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 788 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf