Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase
Purchase on Springer.com
$39.95 / €34.95 / £29.95*
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.
Hereditary tyrosinemia type 1, due to a deficiency of fumarylacetoacetase (FAH), is characterized by progressive liver damage and renal tubular dysfunction and may occur in an acute or a chronic form. An Ala 134 to Asp (GCT to GAT) transition was found in one Turkish and two Norwegian patients with chronic tyrosinemia. SphI digestion of polymerase chain reaction (PCR) amplified genomic DNA identified the mutation and showed that the patients were heterozygous. All these patients had immunoreactive FAH protein in fibroblasts. Another Norwegian patient with chronic disease, without FAH immunoreactive material in fibroblasts, had a Pro 342 to Leu mutation (CCG to CTG). This mutation was identified by MspI digestion of PCR amplified genomic DNA, and the patient was heterozygous. Northern blotting showed FAH mRNA of normal size and amounts in all patients. Site directed mutagenesis and translation in a rabbit reticulocyte lysate demonstrated that both mutations abolished FAH activity.
- Agsteribbe E, Faassen H van, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R (1990) Nucleotide sequence of cDNA encoding human fumarylacetoacetase. Nucleic Acids Res 18:1887.
- Ansorge W, Sproat B, Stegeman J, Schwager C, Zenke M (1987) Automatic DNA sequencing: ultrasensitive detection of fluorescent bands during electrophoresis. Nucleic Acids Res 15:4593–4602.
- Balnaves ME, Nasioulas S, Dahl HHM, Forrest S (1991) Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions. Nucleic Acids Res 19:1155.
- Bednarczuk TA, Wiggins RC, Konat GW (1991) Generation of high efficiency, single-stranded DNA hybridisation probes by PCR. BioTechniques 10:478.
- Berger R, Faassen H van, Taanman JW, Vries H de, Agsteribbe E (1987) Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts. Pediatr Res 22:394–398.
- Berger R, Faassen H van, Taanman JW, Vries H de, Agsteribbe E (1988) Different types of mutations in the chronic and acute forms of type I tyrosinemia. Pediatr Res 24:266 (abstract).
- Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol chloroform extraction. Anal Biochem 162:156–159. CrossRef
- Cleveland DW, Lopata MA, MacDonald RJ, Cowan NJ, Rutter WJ, Kirschner MW (1980) Number and evolutionary conservation of α- and β-tubulin and cytoplasmic β- and γ-actin genes using specific cloned cDNA probes. Cell 20:95–105.
- Coşkun T, Özalp I, Koçak N, Yüce A, Çaglar M, Berger R (1991) Type 1 tyrosinemia: Presentation of 11 cases. J Inherited Metab Dis 14:765–770.
- Goldsmith LA, Laberge C (1989) Tyrosinemia and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 547–562.
- Grompe M, Al-Dhalimy (1992) Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase. Biochem Med Metab Biol 48:26–31.
- Hultman T, Stahl S, Homes E, Uhlén M (1989) Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res 17:4937–4946.
- Hultman T, Bergh S, Moks T, Uhlén M (1991) Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA. BioTechniques 10:84–93.
- Kristensen T, Voss H, Schwage C, Stegeman J, Sproat B, Ansorge W (1988) T7 polymerase in automated dideoxy sequencing. Nucleic Acids Res 16:3487–3496.
- Kvittingen EA, Brodtkorb E (1986) The pre- and post-natal diagnosis of tyrosinemia type I and the detection of carrier state by assay of fumarylacetoacetase. Scand J Clin Lab Invest 46 [Suppl 184]:35–40.
- Kvittingen EA, Jellum E, Stokke O, Fiatmark A, Bergan A, Sødal G, Halvorsen S, Schrumpf E, Gjone E (1986) Liver transplantation in a 23-year-old tyrosinemia patient: effects of the renal tubular dysfunction. J Inherited Metab Dis 9:216–224.
- Kvittingen EA, Talseth T, Halvorsen S, Jacobs C, Hovig T, Flatmark A (1991) Renal failure in adult patients with hereditary tyrosinemia type I. J Inherited Metab Dis 14:53–62.
- Kvittingen EA, Rootwelt H, Dam T van, Faassen H van, Berger R (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumary lacetoacetase protein. Pediatr Res 31:43–46.
- Kvittingen EA, Rootwelt H, Brandzæg P, Bergan A, Berger R (1993) Hereditary tyrosinemia type I; self induced correction of the fumarylacetoacetase defect. J Clin Invest 91:1816–1821.
- Labelle Y, Phaneuf D, Tanguay RM (1991) Cloning and expression analysis of a cDNA encoding fumarylacetoacetate hydrolase: post-transcriptional modulation in rat liver and kidney. Gene 104:197–202.
- Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinemia type 1 by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340:813–817.
- Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: Assignment of the gene to chromosome 15. Am J Hum Genet 48:525–535.
- Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (1992) Type 1 hereditary tyrosinemia: Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest 90:1185–1192.
- Rootwelt H, Kvittingen EA, Agsteribbe E, Hartog MV, Faassen H van, Berger R (1992) The human fumarylacetoacetase gene: characterization of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type I and pseudodeficiency. Hum Genet 89:229–233.
- Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of cDNA with a thermostable DNA polymerase. Science 239:487–491.
- Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning — a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Habor, NY, pp 7.43–7.45.
- Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet 47:308–316.
- Weinberg AG, Mize CE, Worthen HG (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 88:434–438.
- Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase
Volume 93, Issue 6 , pp 615-619
- Cover Date
- Print ISSN
- Online ISSN
- Additional Links
- Industry Sectors
- Author Affiliations
- 1. Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, Norway
- 3. National Institute of Child Health and Human Development, Bethesda, Maryland, USA
- 4. Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands
- 5. Institute of Child Health, Hacettepe University, Ankara, Turkey