Sandbox 181: Difference between revisions
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Ultimately, a mutation in the single-copy gene coding for GSH reductase affecting its activity would disrupt the redox state of the GSSG/2GSH in the cell. If GSH were unable to be regenerated from GSSG the cellular environment would become more oxidising, a phenomenon shown to be associated will the onset of cellular apoptosis at a moderate oxidizing environment and necrosis at higher oxidizing cellular environments<ref>PMID: 10716996 </ref>. | Ultimately, a mutation in the single-copy gene coding for GSH reductase affecting its activity would disrupt the redox state of the GSSG/2GSH in the cell. If GSH were unable to be regenerated from GSSG the cellular environment would become more oxidising, a phenomenon shown to be associated will the onset of cellular apoptosis at a moderate oxidizing environment and necrosis at higher oxidizing cellular environments<ref>PMID: 10716996 </ref>. | ||
Heredity deficiency of GSH reductase is rare<ref name="Kamerbeek">PMID: 17185460 </ref>. A deficiency is most often due a genetic mutation and in two related case studies a deletion of the Asp385-Arg478 segment was found <ref name="Kamerbeek"/>. | Heredity deficiency of GSH reductase is rare<ref name="Kamerbeek">PMID: 17185460 </ref>. A deficiency is most often due a genetic mutation and in two related case studies a deletion of the Asp385-Arg478 segment was found <ref name="Kamerbeek"/>. This shorted the protein to 43.8 kDA and once expressed, was likely degraded due to misfolding, leading to a deficiency of GSH reductase<ref name="Kamerbeek"/>. The symptoms and consequences in these genetically related cases were favism and cataracts<ref name="Kamerbeek"/>. The formation of cataracts in theses patients was likely due to UV-induced oxidative damage to the lens of the eye<ref name="Kamerbeek"/>. | ||
Elevated GSH levels (ie. a more reducing environment) stimulates cellular proliferation <ref>PMID: 16978905 </ref>. | Elevated GSH levels (ie. a more reducing environment) stimulates cellular proliferation <ref>PMID: 16978905 </ref>. | ||