Inherited thermostability variants of seven enzymes in a Japanese population

Satoh, Chiyoko; Neel, James V.; Miura, Akiko; Ueno, Chizuko; Arakawa, Hisayuki; Omine, Hideo; Goriki, Kazuaki; Fujita, Mikio

doi:10.1111/j.1469-1809.1985.tb01671.x

Cited by 8 publications

(6 citation statements)

References 17 publications

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“…These observations are consistent with those concerning intensities of variant bands in the above described variants where the band of variant homodimer was the least intense of the three bands and that of the heterodimer was tess intense than the homodimer band of 1, except for 1-5NG1 where the intensity of the variant homodimer band which is the most cathodal, was as strong as that of homodimer band of 1. Regarding the thermostability of GOT1 variants, we have already reported that phenotypes 1-2HR1, 1-3NG1 and 1-4NGI have normal or increased thermostability (Satoh et al, 1985). Family studies for these variants confirmed the genetic nature of this characteristic, as shown in Table 6.…”

Section: Resultsmentioning

confidence: 63%

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Electrophoretic variants of blood proteins in Japanese VII. Cytoplasmic glutamate-oxaloacetate transaminase (GOT1)

Satoh

Takahashi

et al. 1986

Jap J Human Genet

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SummaryA total of 16,835 children, of whom 11,737 are unrelated, from Hiroshima and Nagasaki were examined for erythrocyte cytoplasmic glutamate-oxaloacetate transaminase (GOT1) by starch gel electrophoresis. A variant allele named GOTI*2HR1 which seems to be identical with GOT1*2 was encountered in polymorphic frequency. Five kinds of rare variants, 3NG1, 4NG1, 5NG1, 6HR1 and 7NG1 were encountered in a total of 109 children. Except for 7NGI for which complete family study was unable, family studies confirmed the genetic nature of these rare variants, since for all instances in which both parents could be examined, one of the parents exhibited the same variant as that of their child. Thermostability profiles of these six variants were normal. The enzyme activities of five were decreased, while the value of one was normal compared to that of GOTI 1.

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Section: Resultsmentioning

confidence: 63%

“…Thermostability profiles of variant enzymes were examined as previously described (Satoh et al, 1985) using 1 : 20 diluted hemolysates prepared from packed red cells preserved in liquid nitrogen. Percent remaining activities were determined after heating for 10 and 20 min at 60~…”

Section: Methodsmentioning

confidence: 99%

Electrophoretic variants of blood proteins in Japanese VII. Cytoplasmic glutamate-oxaloacetate transaminase (GOT1)

Satoh

Takahashi

et al. 1986

Jap J Human Genet

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“…In India, a study to screen newborns with jaundice for the presence of pyruvate kinase deficiency determined that 3.21% of all newborns with jaundice also had the deficiency, with a 30-40% reduction found in pyruvate kinase activity (12) . Screened children of survivors of the atomic bombs in Japan were studied and prevalence values of 1.4% (threshold < 66% of normal) were found among 3069 child (13).…”

Section: Discussionmentioning

confidence: 99%

Study of RBCs Pyruvate Kinase Deficiency in Neonatal Pathological Indirect Hyperbilirubinemia

Syam¹,

Ahmed²,

Hadhood³

et al. 2022

The Egyptian Journal of Hospital Medicine

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Background: Pyruvate kinase (PK) enzyme deficiency is an autosomal recessive disorder with both male and female equally affected. It is the most common enzyme abnormality in the glycolytic pathway of red blood cell metabolism. Clinical presentation of PK deficiency ranges from hydrops fetalis to mild compensated hemolytic jaundice. Objective: The aim of this work was to determine prevalence of RBCs pyruvate kinase enzyme deficiency among neonates with pathological indirect jaundice in Sharkia Governorate. Patients and Methods: This Cross-sectional study was done in Neonatal Intensive Care Unit, Pediatric Department at Zagazig University Hospitals during the period between June 2018 and December 2018. This study included 95 patients with pathological indirect hyperbilirubinemia. Results: There was statistically significant positive correlation between total bilirubin and all of reticulocytes' count, and platelet count. There was statistically significant negative correlation between total bilirubin and all of hemoglobin, red blood cells (RBCs), mean corpuscular volume (MCV), and mean corpuscular hemoglobin concentration (MCHC). There was non-significant correlation between it and other parameters. Pyruvate kinase deficiency was diagnosed in 4.2% of 95 patients with indirect hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was diagnosed in 16.8%. Conclusion: Red blood cells (RBCs) pyruvate kinase enzyme deficiency among neonates with pathological indirect jaundice is the second enzyme deficiency cause indirect jaundice after G6PD and is a risk factor related to pathological jaundice in neonates.

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“…These studies have been extended through population studies to other loci (Mohrenweiser and Neel 1981;Satoh et al 1985). Seven different enzyme systems have been studied, and all systems have been found to contain thermostability variants.…”

Section: Stability Variantsmentioning

confidence: 99%

“…We should note that although these rare alleles have low activity, they do not seem to affect the thermostability of the enzyme (Satoh et al 1985).…”

Section: Activity Variants and Null Allelesmentioning

confidence: 99%

The estimate of protein polymorphism in human populations: Lack of evidence for overestimation due to post-translational modification.

Fuerst

Ferrell

1985

The Japanese journal of genetics

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New sensitive population screening procedures, such as isoelectric focusing, enzyme activity assays and the use of multiple electrophoretic conditions have uncovered considerable hidden variation at many structural loci. It has been suggested, however, that a significant portion of the newly identified variation is due to alleles at modifier genes which cause the post-translational modification of the structural gene product. Some investigators have questioned whether genetic variability assigned to structural loci in Drosophila has been greatly overestimated because of a failure to recognize the existence of such polymorphic modifier genes. Data from human populations has been reviewed for evidence of such genetically mediated posttranslational modification (GMPTM).Tnree genetic systems (glucose-6-phosphate dehydrogenase, alpha-1-antitrypsin and hemoglobin) are reviewed in detail. Each system is subject to non-genetic post-translational modification, but none of the data currently available indicates any role of GMPTM.Other data, including studies on null alleles, activity variants, population surveys and somatic cell hybrids is also reviewed. Again, no convincing evidence has been uncovered for the presence of GMPTM. It is concluded that the current estimates of polymorphism for enzymes and structural proteins in human populations have not been inflated due to the presence of polymorphism for modifier loci.

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Inherited thermostability variants of seven enzymes in a Japanese population

Cited by 8 publications

References 17 publications

Electrophoretic variants of blood proteins in Japanese VII. Cytoplasmic glutamate-oxaloacetate transaminase (GOT1)

Electrophoretic variants of blood proteins in Japanese VII. Cytoplasmic glutamate-oxaloacetate transaminase (GOT1)

Study of RBCs Pyruvate Kinase Deficiency in Neonatal Pathological Indirect Hyperbilirubinemia

The estimate of protein polymorphism in human populations: Lack of evidence for overestimation due to post-translational modification.

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