Occurrence of Defective Hexosephosphate Isomerization in Human Erythrocytes and Leukocytes

Paglia, Donald E.; Holland, Phillip; Baughan, Marjorie A.; Valentine, William N.

doi:10.1056/nejm196901092800203

Cited by 67 publications

(32 citation statements)

References 11 publications

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“…Since this discovery there have been reports of rare genetically determined variants or variants with low catalytic activities from various populations of the world Fitch et al, 1968;Paglia et al, 1969;Shinoda, 1970; Tariverdian et aI., 1970;Welch 1971;Luan Eng and Welch, 1972;Sanpitak et aL, 1973; Nakashima et aI., 1973;Isacchi et al, 1979), most of which concerns the sporadic occurrence of one or two of the nine heterozygotic types originally described in addition to the usual homozygous phenotype PGI-1. The exceptions are the heterozygous phenotypes PGI 3-1 and 4-1 which are of particular interest in Asiatic populations.…”

Section: Discussionmentioning

confidence: 99%

Population genetic study of red cell enzyme phosphoglucose isomerase in India

Papiha

Chahal

1984

Jap J Human Genet

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SummaryThe distribution of red cell enzyme phosphoglucose isomerase was studied by starch gel electrophoresis in 27 different endogamous groups of India. Forty one electrophoretic variants belonging to four out of the nine known heterozygote types and one rare homozygous variant (PGI-3) were found. Comparison of the results with in India and certain other populations showed that PGI is certainly another useful genetic parameter for the study of population diversity in Asia.Inherited variation of the enzyme phosphoglucose isomerase [PGI; o~-D-glucose 6-phosphate ketol isomerase; EC 5.3.1.9] was initially described by Detter et al. (1968), the enzyme being referred to as phosphohexose isomerase. Since this discovery there have been reports of rare genetically determined variants or variants with low catalytic activities from various populations of the world Fitch et al., 1968;Paglia et al., 1969;Shinoda, 1970; Tariverdian et aI., 1970;Welch 1971;Luan Eng and Welch, 1972;Sanpitak et aL, 1973; Nakashima et aI., 1973;Isacchi et al., 1979), most of which concerns the sporadic occurrence of one or two of the nine heterozygotic types originally described in addition to the usual homozygous phenotype PGI-1. The exceptions are the heterozygous phenotypes PGI 3-1 and 4-1 which are of particular interest in Asiatic populations. In both the studies from London (Detter et al., 1968;Welch, 1971) the Asiatic Indians showed an appreciable frequency of the variant PGI 3-1 and subsequent studies of indigenous samples confirmed that the PGI a allele attains polymorphic frequencies in certain populations of India. Indeed, the relatively high frequency of this allele led to the detection of the homozygous phenotype PGI-3 (Papiha et aL, 1974). Ishimoto and Kuwata (1974) compiled the PGI studies in Japan and showed that in Japanese PGI 4-1 variant is more frequent than the other known heterozygous variants. This relatively high frequency of the PGI 4 allele in Japan consistent with the previous studies of Shinoda (1970), also led to the finding of a rare

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Section: Discussionmentioning

confidence: 99%

Population genetic study of red cell enzyme phosphoglucose isomerase in India

Papiha

Chahal

1984

Jap J Human Genet

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“…AMF has been identified to be identical to an intracellular glycolytic enzyme, glucose-6-phosphate isomerase (GPI), catalyzing the interconversion of glucose-6-phosphate and fructose-6-phosphate, the second step of the Embden-Meyerhof glycolytic pathway 3 2 , 3 4 , 3 5 ) . Furthermore, AMF/GPI is also identified as a neurotrophic factor, neuroleukin (NLK) 35,36) . This multi-functional molecule, a member of the ecto/exo-enzyme family, plays an important role in the enhancement of the motility induced by hypoxia 29) .…”

Section: Introductionmentioning

confidence: 99%

Differential Responses of Myogenic C2C12 Cells to Hypoxia between Growth and Muscle-Induction Phases: Growth, Differentiation and Motility

et al. 2011

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Abstract.[Introduction] Local hypoxia plays a favorable role in muscle regeneration. [Subjects and Methods] The effect of hypoxia on cell growth, differentiation, and motility was examined in differentiating and growing C2C12 mouse myoblasts cells, respectively.[Results] Hypoxia induced growth suppression in the growth phase, but the suppression diminished in the differentiation phase. Hypoxia inhibited the expression of differentiation marker proteins, accompanying MyoD mRNA suppression. Expression of HIF-1α protein was induced only in the induction phase, regardless of oxygen concentration. Hypoxia did not alter motile activity in the growing phase, but augmented the motile property in the differentiation phase. Expression of autocrine motility factor mRNA was augmented under hypoxic conditions. [Conclusion] In differentiating cells, HIF-1α induced by myogenic differentiation may compensate for the cell growth suppression due to hypoxia, and support the motility augmentation. Hypoxia may shift differentiating cells into the growth phase which provides the ability to translocate to an appropriate area.

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“…This was not found to be the case for the Cowen variant. Paglia et al [1969] has described another homozygous partial deficiency of red cell PGI. The propositus had 20% of the normal level of red cell PGI activity, and showed a single band on electrophoresis with a very small decrease in cathodal mobility.…”

Section: Discussionmentioning

confidence: 99%

“…Since it has been shown here that the Hay variant is more heat labile, it is this property that could be used to compare it with variant described by Paglia et al [1969].…”

Section: Discussionmentioning

confidence: 99%

Qualitative and Quantitative Variants of Human Phosphoglucose Isomerase

Welch¹

1971

Hum Hered

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Eight rare variants of human PGI have been discovered during a survey of 3,300 blood samples from various parts of the world. Seven of the 8 variants had altered electrophoretic mobilities. One of these variants was only discovered by the use of a second buffer system. Two of the 8 variants had half the normal level of activity in red cells and white cells. Apart from the partial deficiency of 2 of the variants, the 8 variant phenotypes were not found to differ significantly in any of the following properties: Heat and urea stability, Km (F6P) and Ki (6PG), activity and antibody inhibition.

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Occurrence of Defective Hexosephosphate Isomerization in Human Erythrocytes and Leukocytes

Cited by 67 publications

References 11 publications

Population genetic study of red cell enzyme phosphoglucose isomerase in India

Population genetic study of red cell enzyme phosphoglucose isomerase in India

Differential Responses of Myogenic C2C12 Cells to Hypoxia between Growth and Muscle-Induction Phases: Growth, Differentiation and Motility

Qualitative and Quantitative Variants of Human Phosphoglucose Isomerase

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