Metabolomics Profiling of Nephrotic Syndrome towards Biomarker Discovery

Jacob, Mohan V.; Nimer, Refat M.; Alabdaljabar, Mohamad S.; Sabi, Essa M.; Al-Ansari, Mysoon M.; Housien, Maged; Sumaily, Khalid M.; Dahabiyeh, Lina A.; Rahman, Anas M. Abdel

doi:10.3390/ijms232012614

Cited by 5 publications

(2 citation statements)

References 47 publications

(56 reference statements)

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“…The current study has identified a broad array of fifteen altered metabolites in renal amyloidosis patients presenting with nephrotic syndrome, unlike those reported for NS in the literature 44,45 . Out of these, L-cystine and different types of carnitine levels were found to be upregulated.…”

Section: Discussionmentioning

confidence: 62%

Metabolomic fingerprinting for biomarker discovery in renal amyloidosis

Ghosh

Singh

Govil

et al. 2022

Preprint

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Background Minimal change disease (MCD), a glomerular disease subtype is characterised by no visible change in the glomerulus upon light microscopy except for the urinary excretion of excess proteins. The symptoms of minimal change disease and renal amyloidosis are mostly overlapping and thereby misdiagnosed. However, the possible linkage between these two disease types has not been documented. We hypothesised that amyloid formation could be one of the players promoting the pathology associated with minimal change disease, resulting in perturbations of the downstream cellular pathways. Methods One hundred glomerular diseased patients were identified in a two-year study, based on symptoms and biochemical markers. Histopathological analysis showed predominance of minimal change disease in twenty patients. Further, gold standard Congo red staining was performed in these patients to detect amyloid deposition followed by tracking its downstream effects on cellular pathways using mass-spectrometry-based untargeted approach. Results Congo red staining showed presence of amyloid deposits in eleven minimal change diseased patients. Further, plasma metabolomic fingerprinting revealed a total of fifteen biologically important metabolites altered in minimal change diseased patients having renal amyloidosis as compared to controls. Different classes of lipids, carnitines and amino acids were found to be dysregulated in these patients. Conclusion In the present study we have shown the onset of renal amyloidosis and associated pathogenesis in minimal change diseased patients. Additionally, we have identified novel altered metabolic signatures in these patients as compared to controls. This is the first study in context to the Indian population, depicting the potential of metabolomic fingerprinting to identify novel markers for early diagnosis of amyloid formation in minimal change disease, a glomerular disease type.

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Section: Discussionmentioning

confidence: 62%

Metabolomic fingerprinting for biomarker discovery in renal amyloidosis

Ghosh

Singh

Govil

et al. 2022

Preprint

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“…Metabolomics describes analyzing all metabolites (compounds with low molecular weight, generally 1,500 Da) present in a particular sample acquired from a biological system ( Patti et al, 2012 ; Dahabiyeh et al, 2020 ; Gu et al, 2020 ). Metabolomics has emerged as a potentially useful diagnostic and prognostic tool that might explain disease pathogenesis ( Masood et al, 2021 ; Jacob et al, 2022 ; Jans et al, 2022 ). There currently needs to be more investigations on the pathophysiology of GAL that concentrate on urine or blood metabolomics profiling ( Taylor Fischer et al, 2019 ; Hermans et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots

Alodaib

Nimer

Alhumaidy

et al. 2023

Front. Mol. Biosci.

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Introduction:Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly understood.Methods: In this study, a metabolomics approach using ultra-performance liquid chromatography coupled with high-resolution mass spectrometry was used to investigate metabolomic changes in dried blood spots of 15 patients with GAL and 39 healthy individuals.Results: The study found that 2,819 metabolites underwent significant changes in patients with GAL compared to the control group. 480 human endogenous metabolites were identified, of which 209 and 271 were upregulated and downregulated, respectively. PA (8:0/LTE4) and ganglioside GT1c (d18:0/20:0) metabolites showed the most significant difference between GAL and the healthy group, with an area under the curve of 1 and 0.995, respectively. Additionally, the study identified potential biomarkers for GAL, such as 17-alpha-estradiol-3-glucuronide and 16-alpha-hydroxy DHEA 3-sulfatediphosphate.Conclusion: This metabolomics study deepened the understanding of the pathophysiology of GAL and presented potential biomarkers that might serve as prognostic biomarkers to monitor the progression or support the clinical diagnosis of GAL.

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The Advanced Technology and Clinical Application in Metabolomics

Abdel Rahman

2023

Clinical Metabolomics Applications in Genetic Diseases

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Metabolomics Profiling of Nephrotic Syndrome towards Biomarker Discovery

Cited by 5 publications

References 47 publications

Metabolomic fingerprinting for biomarker discovery in renal amyloidosis

Metabolomic fingerprinting for biomarker discovery in renal amyloidosis

Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots

The Advanced Technology and Clinical Application in Metabolomics

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