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Retinoschisis and Norrie disease: a missing link
Rahini Rajendran1, Dhandayuthapani Sudha2, Subbulakshmi Chidambaram3
1Central Inter-Disciplinary Research Facility (CIDRF), Sri Balaji Vidyapeeth (Deemed To Be University), Mahatma Gandhi Medical College and Research Institute Campus, Pondicherry, 607402, India.
BMC Research Notes
|May 27, 2021
Summary
Retinoschisis and Norrie disease, both X-linked retinal disorders, do not directly interact. Instead, the FZD4 protein interactome and MAP kinase signaling pathway likely link these conditions.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Retinoschisis (RS) and Norrie disease (ND) are X-linked recessive retinal disorders.
- Mutations in RS1 and NDP genes cause RS and ND, respectively.
- Overlapping features and gene involvement suggest a potential molecular link, yet it remains unclear.
Purpose of the Study:
- To investigate the molecular association between retinoschisin (RS1) and norrin (NDP).
- To explore potential protein-protein interactions and functional relationships between RS1 and NDP.
Main Methods:
- In vitro and in silico approaches were employed.
- Co-immunoprecipitation assay and MALDI-TOF mass spectrometry analyzed protein interaction in human retina.
- STRING database was used to explore functional relationships.
Main Results:
- Co-immunoprecipitation and mass spectrometry revealed no direct interaction between RS1 and NDP.
- STRING analysis indicated a potential indirect functional association.
- The FZD4 protein interactome, via PLIN2, and the MAP kinase signaling pathway emerged as likely links.
Conclusions:
- RS1 and NDP do not directly interact in the human retina.
- An indirect functional relationship exists between retinoschisis and Norrie disease.
- The FZD4 interactome and MAP kinase signaling pathway may bridge the functional connection between these retinal disorders.
