Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality.

Oyanagi, Kiyomitsu; Tsuchiyama, Akira; Itakura, Yoshihiro; Tamura, Yaeko; Nakao, Tooru; Fujita, Shigeru; Shiono, Hiroshi

doi:10.1620/tjem.151.465

Cited by 11 publications

(9 citation statements)

References 14 publications

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“…Wild-type preparations gave linear plots from 10 to 400 mM proline, with a Km for proline of -50 mM. Values in this vicinity have also been reported for the human enzyme (28). In contrast, the mutant extracts exhibited a curved Lineweaver-Burk plot over this range, with the activity falling more sharply at lower proline concentrations than expected from simple Michaelis-Menten kinetics (Fig.…”

Section: Resultssupporting

confidence: 73%

“…One anticipated consequence of a defective proline oxidase system would be an elevation of free proline levels (28,29). We therefore measured the free amino acid levels in w slgA mutant, w-, Canton-S, and transgenic flies carrying a single copy of pGL2 in the mutant background.…”

Section: Resultsmentioning

confidence: 99%

“…3) although we have not determined the times and sites of transcription at that stage. In human type I hyperprolinemia, proline oxidase activity is reduced and in some cases there is associated mental retardation (28). Activity is also reduced in the PRO/Re mouse (29), with a concomitant increase in serum proline.…”

Section: Discussionmentioning

confidence: 99%

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The sluggish-A gene of Drosophila melanogaster is expressed in the nervous system and encodes proline oxidase, a mitochondrial enzyme involved in glutamate biosynthesis.

Hayward

Delaney

Campbell

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

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Section: Resultssupporting

confidence: 73%

Section: Resultsmentioning

confidence: 99%

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The sluggish-A gene of Drosophila melanogaster is expressed in the nervous system and encodes proline oxidase, a mitochondrial enzyme involved in glutamate biosynthesis.

Hayward

Delaney

Campbell

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

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“…In some cases, an association with mental retardation, hereditary nephropathy, photogenic epilepsy and nerve deafness has been noted (Efron 1965;Oyanagi et al 1987). In many instances, a lack of correlation of type-I hyperprolinaemia with these other defects has been found (Mollica and Pavone 1976), although it has been suggested that it may lead in some cases to marked neurological abnormalities, especially in affected males (Steinlin et al 1989).…”

Section: Discussionmentioning

confidence: 99%

“…The enzyme appears to be deficient in type-I hyperprolinaemia, a human disorder in which serum proline levels are elevated (Efron 1965;Oyanagi et al 1987). These and other reports have suggested an association between type-I hyperprolinaemia and defects such as mental retardation, hereditary nephropathy, photogenic epilepsy and nerve deafness.…”

Section: Introductionmentioning

confidence: 96%

A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia

1997

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We have cloned the complete coding region for a human homologue of the Drosophila melanogaster sluggish-A and yeast PUT1 genes, previously shown to encode proline oxidase activity in these organisms. The predicted 516-residue human protein shows strong homology (51% amino acid sequence identity) to the D. melanogaster protein, indicating that this new human gene may encode proline oxidase. Northern analysis shows that the gene is expressed in human lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas. The gene was mapped by fluorescence in situ hybridization and by in situ hybridization with a [3H]-labelled DNA probe to chromosome 22q11.2, a region previously implicated in type-I hyperprolinaemia in a case of CATCH 22 syndrome, a contiguous gene deletion syndrome involving 22q11. Taken together, the evidence indicates that this new human gene is a good candidate gene for type-I hyperprolinaemia. In view of the neurological phenotype of the D. melanogaster sluggish-A mutant, it is of interest that schizophrenia and bipolar disorder susceptibility genes also map in this region.

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Psychiatric phenotypes associated with hyperprolinemia: A systematic review

Namavar

Duineveld

Both

et al. 2021

American J of Med Genetics Pt B

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Hyperprolinemia Type I and II are genetic metabolic disorders caused by disrupted proline degradation. It has been suggested that hyperprolinemia is associated with increased risk of developmental and mental disorders but detailed information on the psychiatric phenotype in hyperprolinemic patients is limited. Following PRISMA guidelines, we carried out a systematic review to clarify psychiatric phenotypes in patients with hyperprolinemia. We screened 1753 studies and included 35 for analysis, including 20 case reports and 15 case-control and cohort studies. From these studies, a common psychiatric phenotype is observed with a high prevalence of developmental delay, intellectual disability, autism spectrum disorders, and psychosis spectrum disorders. In most cases, a genetic cause of hyperprolinemia was known, these included mutations in the PRODH and ALDH4A1 genes and deletions of chromosome 22q11.2. No evidence for a biochemical phenotype-clinical phenotype correlation was found; that is, no association between higher proline levels and specific psychiatric phenotypes was observed. This suggests that genomic and environmental factors are likely to contribute to clinical outcomes. More studies are needed to clarify whether hyperprolinemia is a primary causal factor underlying the increased risk of developing psychiatric disorders seen in patients with hyperprolinemia, or whether

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Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality.

Cited by 11 publications

References 14 publications

The sluggish-A gene of Drosophila melanogaster is expressed in the nervous system and encodes proline oxidase, a mitochondrial enzyme involved in glutamate biosynthesis.

The sluggish-A gene of Drosophila melanogaster is expressed in the nervous system and encodes proline oxidase, a mitochondrial enzyme involved in glutamate biosynthesis.

A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia

Psychiatric phenotypes associated with hyperprolinemia: A systematic review

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