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http://purl.uniprot.org/citations/28389235http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28389235http://www.w3.org/2000/01/rdf-schema#comment"

Objectives

Although high phenylalanine (phe) exposure has been shown to influence the DNA methylation status of leukocytes in hyperphenylalaninemia (HPA), the potential of DNA methylation changes as a biomarker of pretreatment high phe exposure in diet free newborns with HPA has not been explored. We therefore investigated the DNA methylation pattern of the phenylalanine hydroxylase (PAH) gene promoter at different phe levels, and the possibility of DNA methylation pattern changes being a biomarker of high phe exposure in diet free newborns with HPA.

Design and methods

With a combination of methylated PCR, high resolution melting, and sequencing, the cytosine phosphodiester bond guanine (CpG) dinucleotides in the 5' untranslated region of the PAH gene were analysed 2-15days after birth using leukocyte DNA from diet free 16 newborns with HPA and 16 healthy controls.

Results

In 2-3days blood cards, GTGTG and GTGC/TG alleles were both detected at similar low mean phe levels in healthy controls (59.39±14.62 and 55.33±13.43μmol/L) and non-phenylketonuria (PKU) HPA (265.00 and 244.25±73.73μmol/L). In HPA with PKU, the GTGTG and GTGC/TG alleles were both detected at dissimilar elevated mean phe levels (380.80±64.62 and 589.00±191.96μmol/L). In ≥7day blood cards, GTGTG and GTGC/TG alleles were both detected at similar excess mean phe levels in HPA with PKU (2297±374.38 and 1562.66±718.23μmol/L).

Conclusion

The demethylated GTGTG and partial methylated GTGC/TG alleles are not pathogenic alleles. Our results suggest a specific remodeling of the DNA methylated alleles of the PAH promoter at elevated, but not excess phe levels in diet free newborns with PKU."xsd:string
http://purl.uniprot.org/citations/28389235http://purl.org/dc/terms/identifier"doi:10.1016/j.clinbiochem.2017.04.001"xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/author"Farhadi S."xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/author"Schanzer A."xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/author"Greber-Platzer S."xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/author"Item C.B."xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/name"Clin Biochem"xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/pages"729-732"xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/title"DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia."xsd:string
http://purl.uniprot.org/citations/28389235http://purl.uniprot.org/core/volume"50"xsd:string
http://purl.uniprot.org/citations/28389235http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/28389235
http://purl.uniprot.org/citations/28389235http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/28389235
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http://purl.uniprot.org/uniprot/#_Q16267-mappedCitation-28389235http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28389235
http://purl.uniprot.org/uniprot/#_Q16268-mappedCitation-28389235http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28389235
http://purl.uniprot.org/uniprot/#_S6C6B5-mappedCitation-28389235http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28389235
http://purl.uniprot.org/uniprot/#_Q66RJ5-mappedCitation-28389235http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28389235
http://purl.uniprot.org/uniprot/#_Q66RJ7-mappedCitation-28389235http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28389235
http://purl.uniprot.org/uniprot/#_Q66RJ9-mappedCitation-28389235http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28389235
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