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At least 163 records · Page 9Linked to original sources
PubMed1981

Developmental expression of glucose and triose phosphate isomerase genes in teleost fishes (brachydanio).

The ontogeny of glucosephosphate isomerase (GPI; E.C. 5.3.1.9) and triosephosphate isomerase (TPI; E.C. 5.3.1.1) isozymes in Brachydanio rerio, (zebra danio), B. albolineatus (pearl danio) and hybrids formed by their reciprocal crosses were examined by electrophoretic and spectrophotometric methods. The two species showed virtually identical adult, tissue-specific distributions and developmental progressions for both GPI and TPI isozymes. The Gpi-A and Tpi-B loci were expressed in all tissues studied. The Gpi-B locus was predominantly expressed in skeletal muscle and the Tpi-A locus in eye, brain and ovary. The GPI-A2, TPI-A2, TPI-AB and TPI-B2 isozymes were continuously expressed from fertilization through 5 days postfertilization. The GPI-B2 isozyme initially appeared at 35 hours postfertilization, temporally correlating with the early differentiation of trunk somite myoblasts. Spectrophotometric analysis of total GPI showed fluctuations in activity through 48 hours, followed by a steady increase through 4 days postfertilization. Total TPI showed increased activity by the end of gastrulation and a sharp rise in activity beginning at 25 hours postfertilization. Embryos of reciprocal hybrids between B. rerio and B. albolineatus showed that isozymes derived from the activation of the paternal Tpi-B, Gpi-A and Tpi-A alleles were initially detected at 20, 25, and 48 hours following fertilization, respectively. The maternal and paternal isozymes of the Gpi-B locus were synchronously expressed at 35 hours postfertilization. The pattern of GPI-B2 expression in hybrids followed a pattern similar to that in intraspecific crosses. Exposure of B. rerio embryos to pulses of actinomycin D at various stages prior to 35 hours postfertilization showed that messenger RNA encoding the GPI-B2 isozyme was first transcribed over a 14-hour interval initiated during mid-gastrulation. Translation of the GPI-B2 message occurred during a 13-hour period immediately preceding the embryonic expression of the GPI-B2 isozyme. Our studies with Brachydanio indicate that several gene loci are activated at gastrulation and transcribe messenger RNA molecules coding for histospecific isozymes associated with later stages of organogenesis.

Animals↗
PubMedDate not supplied

Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency.

Prenatal diagnosis has been performed on umbilical cord blood of an 18 weeks fetus of heterozygous triosephosphate isomerase (TPI) deficient parents. After excluding maternal blood contamination, TPI activity was measured and found to be 60 per cent of the normal mean whereas the value of glucose-6-phosphate dehydrogenase activity was in the normal range of fetal blood. In addition, the analysis of the characteristics of fetal TPI, i.e. Km measurements for glyceraldehyde-3-phosphate, heat stability tests and electrophoretic studies, did not show any evidence of a special form of TPI in fetal blood. These results were consistent with the heterozygous state and were confirmed at birth.

Anemia, Hemolytic, Congenital↗
PubMed1987

First trimester studies of a fetus at risk for triose phosphate isomerase deficiency.

A first trimester prenatal diagnosis was offered to a mother whose child had died of haemolytic anaemia and multisystem disease caused by TPI deficiency. The deficiency state was characterized by greatly reduced TPI activity in both erythrocytes and peripheral lymphocytes. Specific activity of TPI in trophoblast homogenates from the index fetus was about 30 per cent less than in the controls, but the heat stability test showed overlap. These data were confirmed in uncultured and cultured amniotic cells, where glycolytic intermediate concentrations DHAP, GAP and FDP fell in the range of controls. These results suggested that the fetus was a TPI heterozygote. This prenatal prediction was confirmed by RBC and haematological studies at birth.

Amniocentesis↗
PubMed1985

Hereditary triose phosphate isomerase deficiency: seven new homozygous cases.

Seven new homozygous cases of hereditary triosephosphate isomerase (TPI) deficiency have been detected in five unrelated families. Two of the families originate in France, the others from Algeria, Yugoslavia, and Morocco. Only the parents coming from Algeria and Morocco were first cousins. In the other parents no evidence of consanguinity was found. All seven patients exhibited the same symptoms, i.e. hemolytic anemia appearing very early after birth associated with progressive neuromuscular symptoms. Expression of the deficiency is heterogeneous; this had previously been pointed out in the previously reported cases of TPI deficiency. Red cell TPI activity was 3 to 4% of the normal mean in the patients and 50 to 60% in the parents. The latter did not exhibit any clinical symptoms. The levels of red cell glycolytic intermediates and the characteristics of the mutated TPI could be studied in four of the patients only. Substantial increases of red cell dihydroxyacetone phosphate and of fructose 1,6-diphosphate, normal Km of TPI for glyceraldehyde phosphate, and thermoinstability of the enzyme were found. In addition the electrophoretic pattern showed no significant modification of the mobility of the TPI bands, but abnormal decreased staining of the two more anodal bands.

Carbohydrate Epimerases↗