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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
Summary
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.
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