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Folding Defects Leading to Primary Hyperoxaluria.

Elisa Oppici1, Mirco Dindo1, Carolina Conter1

  • 1Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Strada Le Grazie 8, 37134, Verona, Italy.

Handbook of Experimental Pharmacology
|October 27, 2017
PubMed
Summary

Primary hyperoxalurias are inherited enzyme disorders caused by protein misfolding. Improving enzyme folding could offer new therapeutic strategies for these conditions.

Keywords:
4-Hydroxy-2-oxoglutarate aldolaseAlanine/glyoxylate aminotransferaseGlyoxylate reductase/hydroxypyruvate reductasePharmacological chaperonesPrimary hyperoxaluriaProtein aggregationProtein misfoldingRare disease

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Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Primary hyperoxalurias are inherited metabolic disorders characterized by excessive oxalate production and deposition.
  • These conditions lead to severe kidney damage due to calcium oxalate crystal accumulation.
  • Enzymatic deficits in glyoxylate detoxification pathways are the underlying cause.

Purpose of the Study:

  • To review the role of protein misfolding in primary hyperoxalurias.
  • To explore the molecular mechanisms of enzyme dysfunction in these diseases.
  • To identify potential therapeutic strategies targeting protein folding.

Main Methods:

  • Literature review of studies on primary hyperoxalurias and protein misfolding.
  • Analysis of molecular mechanisms of enzyme deficits in Types I, II, and III.
  • Evaluation of existing data on pathogenic variants and their impact on protein conformation.

Main Results:

  • Primary hyperoxaluria Type I is linked to misfolding of alanine/glyoxylate aminotransferase (AGT), leading to aggregation, degradation, or mistargeting.
  • Pathogenic variants in glyoxylate reductase/hydroxypyruvate reductase (GRHPR) and 4-hydroxy-2-oxoglutarate aldolase (HOGA1) also suggest potential folding defects.
  • Most primary hyperoxalurias result from enzymes failing to achieve their functional conformation.

Conclusions:

  • Primary hyperoxalurias can be classified as protein misfolding disorders.
  • Therapeutic strategies aimed at enhancing enzyme folding could be beneficial.
  • Further research into the molecular basis of GRHPR and HOGA1 variants is warranted.