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Contents
Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria / Sung-Chul Jung ; Joo-Won Park ; Hyun-Jeong Oh ; Jin-Ok Choi ; Kyung-In Seo ; Eun-Sook Park ; Hae-Young Park 1
[요약] 1
Introduction 1
Materials and methods 2
Recombinant AAV construction and production 2
Cell culture and animal experiments 2
Plasma phenylalanine assay and PAH enzyme assay 2
The effect of gene therapy on maternal PKU syndrome 2
Statistical analysis 2
Results 2
PAH activities and plasma phenylalanine concentration in PKU mice 2
Effect of rAAV2/8-hPAH treatment on pregnant PKU mice 4
Discussion 5
Acknowledgments 6
REFERENCES 6
초록보기
Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder
caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of
phenylalanine leads to severe mental and psychomotor retardation, and the fetus
of an uncontrolled pregnant female patient presents with maternal PKU syndrome.
We have reported previously on the cognitive outcome of biochemical and phenotypic
reversal of PKU in a mouse model, Pahenu2, by the AAV serotype 2-mediated
gene delivery of a human PAH transgene. However, the therapeutic efficacy had
been limited to only male PKU mice. In this study, we generated a pseudotyped
recombinant AAV2/8-hPAH vector and infused it into female PKU mice through the
hepatic portal vein or tail vein. Two weeks after injection, complete fur color change
to black was observed in female PKU, as in males. The PAH activity in the liver
increased to 65-70% of the wild-type activity in female PKU mice and to 90% in
male PKU mice. Plasma phenylalanine concentration in female PKU mice decreased
to the normal value. In addition, the offsprings of the treated female PKU mice can
rescue from the harmful effect of maternal hyperphenylalaninemia. These results
indicate that recombinant AAV2/8-mediated gene therapy is a potential therapeutic
strategy for PKU.권호기사
참고문헌 (29건) : 자료제공( 네이버학술정보 )
| 번호 | 참고문헌 | 국회도서관 소장유무 |
|---|---|---|
| 1 | Regional Mapping of the Phenylalanine Hydroxylase Gene and the Phenylketonuria Locus in the Human Genome  |
미소장 |
| 2 | PAH Mutation Analysis Consortium Database: A Database for Disease-Producing and Other Allelic Variation at the Human PAH Locus |
미소장 |
| 3 | The Structural Basis of Phenylketonuria |
미소장 |
| 4 | The pathogenesis of mental retardation in phenylketonuria and other inborn errors of amino acid metabolism. |
미소장 |
| 5 | Neurological aspects of adult phenylketonuria. |
미소장 |
| 6 | Maternal Phenylketonuria: An International Study |
미소장 |
| 7 | Preliminary report on the effects of diet discontinuation in PKU |
미소장 |
| 8 | Hepatic Gene Therapy: Adenovirus Enhancement of Receptor-Mediated Gene Delivery and Expression in Primary Hepatocytes |
미소장 |
| 9 | Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. |
미소장 |
| 10 | Nagasaki Y, Matsubara Y, Takano H, Fujii K, Senoo M, Akanuma J, Takahashi K, Kure S, Hara M, Kanegae Y, Saito I, Narisawa K. Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer. Pediatr Res 1999; 45: 465-73. | 미소장 |
| 11 | Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice. |
미소장 |
| 12 | Oh HJ, Park ES, Kang S, Jo I, Jung SC. Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adenoassociated virus vector-mediated gene transfer. Pediatr Res 2004; 56: 278-84. | 미소장 |
| 13 | Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer. |
미소장 |
| 14 | Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. |
미소장 |
| 15 | Novel Adeno-Associated Viruses from Rhesus Monkeys as Vectors for Human Gene Therapy |
미소장 |
| 16 | Unrestricted hepatocyte transduction with adeno-associated virus serotype 8 vectors in mice. |
미소장 |
| 17 | Adeno-Associated Viral Vector-Mediated Gene Transfer Results in Long-Term Enzymatic and Functional Correction in Multiple Organs of Fabry Mice |
미소장 |
| 18 | The phenylketonuria mouse model: a meeting review. |
미소장 |
| 19 | Postnatal effects of nicotine on incisor development of albino mouse. |
미소장 |
| 20 | Amelioration of zidovudine-induced fetal toxicity in pregnant mice. |
미소장 |
| 21 | Regulatory T cells induce a privileged tolerant microenvironment at the fetal-maternal interface. |
미소장 |
| 22 | Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway. |
미소장 |
| 23 | Intrahepatic injection of recombinant adeno-associated virus serotype 2 overcomes gender-related differences in liver transduction. |
미소장 |
| 24 | Chen L, Thung SN, Woo SL. Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy. Mol Ther 2007; 15: 1079-85. | 미소장 |
| 25 | Effect of Maternal Blood Phenylalanine Level on Mouse Maternal Phenylketonuria Offspring |
미소장 |
| 26 | Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. |
미소장 |
| 27 | Arruda VR, Fields PA, Milner R, Wainwright L, De Miguel MP,Donovan PJ, Herzog RW, Nichols TC, Biegel JA, Razavi M, Dake M, Huff D, Flake AW, Couto L, Kay MA, High KA. Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males. Mol Ther 2001; 4: 586-92. | 미소장 |
| 28 | No evidence for germ‐line transmission following prenatal and early postnatal AAV‐mediated gene delivery |
미소장 |
| 29 | Schuettrumpf J, Liu JH, Couto LB, Addya K, Leonard DG, Zhen Z, Sommer J, Arruda VR. Inadvertent germline transmission of AAV2 vector: findings in a rabbit model correlate with those in a human clinical trial. Mol Ther 2006; 13: 1064-73. | 미소장 |
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