prikaz prve stranice dokumenta Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency
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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, br. 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, br. 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, i sur.. Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency. PLoS ONE [Internet]. 14.03.2016. [pristupljeno 12.04.2024.];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, br. 3, Ožujak 2016. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:427051. [Citirano: 12.04.2024.]

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Naslov (engleski)Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency
AutorAntje Motzek
AutorJelena Knežević
AutorOlivier J. Switzeny
AutorAlexis Cooper
AutorIvo Barić
AutorRobert Belužić
AutorKevin A. Strauss
AutorErik G. Puffenberger
AutorS. Harvey Mudd
AutorOliver Vugrek
AutorUlrich Zechner
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaPLoS ONE
Brojčani podacivol. 11, br. 3, e0151261
p-ISSN1932-6203
DOIhttps://doi.org/10.1371/journal.pone.0151261
URN:NBNurn:nbn:hr:105:427051
Datum objave publikacije2016-03-14
URL dokumentahttp://doi.org/10.1371/journal.pone.0151261
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 08:49:01