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Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model
- Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model
- Park J.-W.; Park E.-S.; Choi E.N.; Park H.-Y.; Jung S.-C.
- Ewha Authors
- 박혜영; 정성철; 박주원
- SCOPUS Author ID
- 박혜영; 정성철; 박주원
- Issue Date
- Journal Title
- Clinica Chimica Acta
- vol. 401, no. 41276, pp. 90 - 99
- SCI; SCIE; SCOPUS
- Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine. The resultant hyperphenylalaninemia causes mental retardation, seizure, and abnormalities in behavior and movement. Methods: We analyzed gene expression profiles in brain tissues of Pahenu2 mice to elucidate the mechanisms involved in phenylalanine-induced neurological damage. The altered gene expression was confirmed by real-time PCR and Western blotting. To identify markers associated with neurological damage, we examined TTR expression in serum by Western blotting. Results: Gene expression profiling of brain tissue from a mouse model of PKU revealed overexpression of transthyretin (Ttr), sclerostin domain containing 1 (Sostdc1), α-Klotho (Kl), prolactin receptor (Prlr), and early growth response 2 (Egr2). In contrast to its overexpression in the brain, TTR expression was low in the sera of PKU mice offered unrestricted access to a diet containing phenylalanine. Expression of TTR decreased in a time-dependent manner in phenylalanine-treated HepG2 cells. Conclusions: These findings indicate that Ttr, Sostdc1, Kl, Prlr, and Egr2 can be involved in the pathogenesis of PKU and that phenylalanine might have a direct effect on the level of TTR in serum. © 2008 Elsevier B.V. All rights reserved.
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