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Circulating miR-184 is a Potential Biomarker of Cardiac and Renal Damage in Anderson-Fabry Disease

ABSTRACT: Circulating miR-184 is a Potential Biomarker of Cardiac and Renal Damage in Anderson-Fabry Disease

PROVIDER: PRJNA680346 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR13118562.fastq.gz	Fastqsanger.gz
	SRR13118563.fastq.gz	Fastqsanger.gz
	SRR13118564.fastq.gz	Fastqsanger.gz
	SRR13118565.fastq.gz	Fastqsanger.gz
	SRR13118566.fastq.gz	Fastqsanger.gz

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Circulating miR-184 is a Potential Biomarker of Cardiac and Renal Damage in Anderson-Fabry Disease

Project description:The clinical symptoms of Fabry disease are caused by progressive accumulation of unprocessed globotriaosylceramide metabolite within cells, inducing multiple organ damage. Enzyme replacement therapy (ERT) is the only strategy to restore enzymatic activity, but a reliable biomarker to assess treatment response does not exist. Here, we identify circulating miR-184 as a sensitive marker of response to ERT and of clinical outcome for cardiac and kidney involvement.

2021-11-06 | GSE162042 | GEO

Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson-Fabry disease.

Project description:Enzyme replacement therapy (ERT) is a mainstay of treatment for Anderson-Fabry disease (AFD), a pathology with negative effects on the heart and kidneys. However, no reliable biomarkers are available to monitor its efficacy. Therefore, we tested a panel of four microRNAs linked with cardiac and renal damage in order to identify a novel biomarker associated with AFD and modulated by ERT. To this end, 60 patients with a definite diagnosis of AFD and on chronic ERT, and 29 age- and sex-matched healthy individuals, were enrolled by two Italian university hospitals. Only miR-184 met both conditions: its level discriminated untreated AFD patients from healthy individuals (c-statistic = 0.7522), and it was upregulated upon ERT (P < 0.001). On multivariable analysis, miR-184 was independently and inversely associated with a higher risk of cardiac damage (odds ratio = 0.86; 95% confidence interval [CI] = 0.76-0.98; P = 0.026). Adding miR-184 to a comprehensive clinical model improved the prediction of cardiac damage in terms of global model fit, calibration, discrimination, and classification accuracy (continuous net reclassification improvement = 0.917, P < 0.001; integrated discrimination improvement [IDI] = 0.105, P = 0.017; relative IDI = 0.221, 95% CI = 0.002-0.356). Thus, miR-184 is a circulating biomarker of AFD that changes after ERT. Assessment of its level in plasma could be clinically valuable in improving the prediction of cardiac damage in AFD patients.

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