prikaz prve stranice dokumenta Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency
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Scientific paper - Original scientific paper
Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency
PLoS ONE, 11 (2016), 3; e0151261. https://doi.org/10.1371/journal.pone.0151261
Motzek, Antje; Knežević, Jelena; Switzeny, Olivier J.; Cooper, Alexis; Barić, Ivo; Belužić, Robert; Strauss, Kevin A.; Puffenberger, Erik G.; Mudd, S. Harvey; Vugrek, Oliver; Zechner, Ulrich

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Motzek, A., Knežević, J., Switzeny, O. J., Cooper, A., Barić, I., Belužić, R. ... Zechner, U. (2016). Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency. PLoS ONE, 11. (3). doi: 10.1371/journal.pone.0151261

Motzek, Antje, et al. "Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency." PLoS ONE, vol. 11, no. 3, 2016. https://doi.org/10.1371/journal.pone.0151261

Motzek, Antje, Jelena Knežević, Olivier J. Switzeny, Alexis Cooper, Ivo Barić, Robert Belužić, Kevin A. Strauss, et al. "Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency." PLoS ONE 11, no. 3 (2016). https://doi.org/10.1371/journal.pone.0151261

Motzek, A., et al. (2016) 'Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency', PLoS ONE, 11(3). doi: 10.1371/journal.pone.0151261

Motzek A, Knežević J, Switzeny OJ, Cooper A, Barić I, Belužić R, and sur.. Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency. PLoS ONE [Internet]. 2016 March 14 [cited 2024 May 08];11(3). doi: 10.1371/journal.pone.0151261

A. Motzek, et al., "Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency", PLoS ONE, vol. 11, no. 3, March 2016. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:427051. [Accessed: 08 May 2024]

Metadata
Title (english)Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency
AuthorAntje Motzek
AuthorJelena Knežević
AuthorOlivier J. Switzeny
AuthorAlexis Cooper
AuthorIvo Barić
AuthorRobert Belužić
AuthorKevin A. Strauss
AuthorErik G. Puffenberger
AuthorS. Harvey Mudd
AuthorOliver Vugrek
AuthorUlrich Zechner
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
S-adenosylhomocysteine hydrolase (AHCY) deficiency is a rare autosomal recessive disorder in methionine metabolism caused by mutations in the AHCY gene. Main characteristics are psychomotor delay including delayed myelination and myopathy (hypotonia, absent tendon reflexes etc.) from birth, mostly associated with hypermethioninaemia, elevated serum creatine kinase levels and increased genome wide DNA methylation. The prime function of AHCY is to hydrolyse and efficiently remove S-adenosylhomocysteine, the by-product of transmethylation reactions and one of the most potent methyltransferase inhibitors. In this study, we set out to more specifically characterize DNA methylation changes in blood samples from patients with AHCY deficiency. Global DNA methylation was increased in two of three analysed patients. In addition, we analysed the DNA methylation levels at differentially methylated regions (DMRs) of six imprinted genes (MEST, SNRPN, LIT1, H19, GTL2 and PEG3) as well as Alu and LINE1 repetitive elements in seven patients. Three patients showed a hypermethylation in up to five imprinted gene DMRs. Abnormal methylation in Alu and LINE1 repetitive elements was not observed. We conclude that DNA hypermethylation seems to be a frequent but not a constant feature associated with AHCY deficiency that affects different genomic regions to different degrees. Thus AHCY deficiency may represent an ideal model disease for studying the molecular origins and biological consequences of DNA hypermethylation due to impaired cellular methylation status.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titlePLoS ONE
Numberingvol. 11, no. 3, e0151261
p-ISSN1932-6203
DOIhttps://doi.org/10.1371/journal.pone.0151261
URN:NBNurn:nbn:hr:105:427051
Publication2016-03-14
Document URLhttp://doi.org/10.1371/journal.pone.0151261
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 08:49:01