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Minimal change nephrotic syndrome and prohibitin-2 gene polymorphism

Keisuke Sugimoto1, Tomoki Miyazawa1, Kohei Miyazaki1

  • 1Department of Pediatrics, Faculty of Medicine, Kindai University, 377-2 Ohno-higashi, Osaka-sayama, 589-8511, Japan.

Clinical and Experimental Nephrology
|November 5, 2016
PubMed
Abstract

Insights

A prohibitin 2 gene variant may increase susceptibility to minimal change nephrotic syndrome (MCNS) and allergic diseases by reducing cellular tolerance to reactive oxygen species (ROS). This finding highlights a potential link between genetic factors and oxidative stress in MCNS recurrence.

Area of Science:

  • Nephrology
  • Genetics
  • Immunology

Background:

  • Minimal change nephrotic syndrome (MCNS) frequently co-occurs with allergic diseases, suggesting shared underlying mechanisms.
  • Oxidative stress, resulting from an imbalance between reactive oxygen species (ROS) and antioxidants, is implicated in MCNS and atopic dermatitis.
  • Prohibitin 2 (PHB2) plays a role in mitochondrial protection against ROS and in podocyte function via its PHB-like domain.

Observation:

  • Exome sequencing was performed on five patients with frequently relapsing MCNS, allergic disease, and elevated serum IgE.
  • A heterozygous prohibitin 2 polymorphism (c.873-3_873-2 delCA, rs111523336) was identified in one patient, potentially disrupting PHB2 transcription.
  • Increased peripheral blood ROS was observed even during MCNS remission in the patient with the variant.

Findings:

  • The identified prohibitin 2 variant may reduce ROS tolerance in glomerular epithelial cells, leading to increased ROS exposure and glomerular basement membrane permeability.
  • This ROS intolerance and potential signaling failure in the glomerular slit membrane could contribute to MCNS development and recurrence.
  • The variant might also increase susceptibility to allergic skin diseases like atopic dermatitis.

Implications:

  • Prohibitin 2 analysis may be warranted in MCNS patients with co-existing allergic conditions.
  • Understanding the role of PHB2 in ROS tolerance could offer new therapeutic targets for MCNS and related allergic disorders.
  • Further studies are needed to confirm the association between prohibitin 2 variants and MCNS pathogenesis.
Keywords:
AntioxidantsAtopic dermatitisMinimal change nephrotic syndromeMutationsProhibitinReactive oxygen species

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