Animal models reveal pathophysiologies of tyrosinemias

被引：15

作者：

Endo, F ^{[1
]}

Tanaka, Y

Tomoeda, K

Tanoue, A

Tsujimoto, G

Nakamura, K

机构：

[1] Kumamoto Univ, Sch Med, Dept Pediat, Kumamoto 8608556, Japan

[2] Natl Res Inst Child Hlth & Dev, Dept Mol & Cellular Pharmacol, Setagaya Ku, Tokyo 1548567, Japan

来源：

JOURNAL OF NUTRITION | 2003年 / 133卷 / 06期

关键词：

tyrosinemia; apoptosis; animal model mice; hereditary tyrosinemia;

D O I：

10.1093/jn/133.6.2063S

中图分类号：

R15 [营养卫生、食品卫生]; TS201 [基础科学];

学科分类号：

100403 ;

摘要：

The activity of the enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) is regulated by transcription factors. Mutations in the HPD locus are related to two known distinct diseases: hereditary tyrosinemia type 3 and hawkinsinuria. HPD-deficient mice are a good model with which to examine the biological effects of 4-hydroxyphenylpyruvic acid, which is a keto acid that causes no apparent visceral damage. In contrast, hereditary tyrosinemia type 1, a genetic disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH), induces severe visceral injuries. Mice with FAH deficiency are lethal after birth; thus, efforts to elucidate the mechanisms of the disease process have been impeded. The use of Fah(-/-) Hpd(-/-) double-mutant mice has enabled studies on tyrosinemias, and essential features of visceral injury have been reveale. J. Nutr. 133: 2063S-2067S, 2003.

引用

页码：2063S / 2067S

页数：5

共 29 条

[1] STRUCTURE OF THE HUMAN 4-HYDROXYPHENYLPYRUVIC ACID DIOXYGENASE GENE (HPD) [J].

AWATA, H ;

ENDO, F ;

MATSUDA, I .

GENOMICS, 1994, 23 (03) :534-539

[2] STRUCTURAL ORGANIZATION AND ANALYSIS OF THE HUMAN FUMARYLACETOACETATE HYDROLASE GENE IN TYROSINEMIA TYPE-I [J].

AWATA, H ;

ENDO, F ;

TANOUE, A ;

KITANO, A ;

NAKANO, Y ;

MATSUDA, I .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1994, 1226 (02) :168-172

[3] DEFICIENCY OF FUMARYLACETOACETASE IN A PATIENT WITH HEREDITARY TYROSINEMIA [J].

BERGER, R ;

SMIT, GPA ;

STOKERDEVRIES, SA ;

DURAN, M ;

KETTING, D ;

WADMAN, SK .

CLINICA CHIMICA ACTA, 1981, 114 (01) :37-44

[4]

DANKS DM, 1981, ACTA PAEDIATR SCAND, V64, P209

[5]

ENDO F, 1992, J BIOL CHEM, V267, P24235

[6] 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY WITH NORMAL FUMARYLACETOACETASE - A NEW VARIANT FORM OF HEREDITARY HYPERTYROSINEMIA [J].

ENDO, F ;

KITANO, A ;

UEHARA, I ;

NAGATA, N ;

MATSUDA, I ;

SHINKA, T ;

KUHARA, T ;

MATSUMOTO, I .

PEDIATRIC RESEARCH, 1983, 17 (02) :92-96

[7] Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells [J].

Endo, F ;

Sun, MS .

JOURNAL OF INHERITED METABOLIC DISEASE, 2002, 25 (03) :227-234

[8]

ENDO F, 1991, AM J HUM GENET, V48, P704

[9] A NONSENSE MUTATION IN THE 4-HYDROXYPHENYLPYRUVIC ACID DIOXYGENASE GENE (HPD) CAUSES SKIPPING OF THE CONSTITUTIVE EXON AND HYPERTYROSINEMIA IN MOUSE STRAIN-III [J].

ENDO, F ;

AWATA, H ;

KATOH, H ;

MATSUDA, I .

GENOMICS, 1995, 25 (01) :164-169

[10] Complete rescue of lethal albino c(14CoS) mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway [J].

Endo, F ;

Kubo, S ;

Awata, H ;

Kiwaki, K ;

Katoh, H ;

Kanegae, Y ;

Saito, I ;

Miyazaki, J ;

Yamamoto, T ;

Jakobs, C ;

Hattori, S ;

Matsuda, I .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (39) :24426-24432

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