Luciferase Labeling for Differentiating Thin Basement Membrane Nephropathy from Alport Syndrome

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Luciferase Labeling for Differentiating Thin Basement Membrane Nephropathy from Alport Syndrome

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Co-author 1

Xinyu Kuang kuangxy@shchildren.com.cn Shanghai Children's Hospital Nephrology, Rheumatology and Immunology Shanghai China *

Co-author 2

Yue Cai 13862650533@163.com Shanghai Children's Hospital Nephrology, Rheumatology and Immunology Shanghai China -

Co-author 3

Yingqi Lin lyq01777@163.com Shanghai Children's Hospital Nephrology, Rheumatology and Immunology Shanghai China -

Co-author 4

Lei Sun sunlei@shchildren.com.cn Shanghai Children's Hospital Nephrology, Rheumatology and Immunology Shanghai China -

Co-author 5

Mengying Li imengying.li@sjtu.edu.cn Shanghai Children's Hospital Nephrology, Rheumatology and Immunology Shanghai China -

Co-author 6

Wenyan Huang hwy65@hotmail.cm Shanghai Children's Hospital Nephrology, Rheumatology and Immunology Shanghai China -

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Introduction

Mutations in the COL4A3 and COL4A4 genes are implicated in two distinct renal disorders: thin basement membrane nephropathy (TBMN) and Alport syndrome (AS), both inherited in an autosomal dominant manner. Despite sharing the same pathogenic genes, these two conditions exhibit significantly divergent clinical prognoses. Currently, there is a lack of straightforward non-invasive diagnostic modalities for differentiating between TBMN and AS. This study aimed to validate the diagnostic reliability of the NanoLuc luciferase dual-subsystem for the identification and differentiation of TBMN and AS.

Methods

A retrospective cohort study was conducted, including 16 pediatric patients diagnosed with TBMN or AS at Shanghai Children's Hospital between May 2014 and August 2022. Clinical data, pathological findings, and genetic information from the patients' family pedigrees were systematically collected. Plasmids harboring mutations in the COL4A3, COL4A4, and COL4A5 genes, as well as wild-type (WT) plasmids, were constructed and transfected into 293T cells. The NanoBiT® Protein-Protein Interaction (PPI) Assay was utilized to detect luminescent signals in live cells. Statistical analyses, including comparisons of luminescence expression levels and diagnostic sensitivity across groups, were performed using SPSS 20.0 software.

Results

Among the 16 pediatric patients with COL4A3/COL4A4 gene mutations enrolled in the study, 14 were diagnosed with TBMN and 2 with AS. Luminescence detection using the NanoBiT® system showed that all mutation-bearing groups had significantly lower luminescence expression compared to the WT group. Notably, the AS group exhibited the most substantial reduction in luminescence, with a statistically significant difference when compared to the TBMN group. When the luminescence expression level ranged from 397.8 to 12480 (relative luminescence units), the diagnostic sensitivity for TBMN reached 92.86%.

Conclusion

The NanoBiT® system holds promise as a non-invasive and reliable diagnostic tool for differentiating AS from TBMN in pediatric patients.

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