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High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease
Joint Authors
Jaurretche, Sebastián
Perez, Germán R.
Venera, Graciela
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-01-10
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Renal involvement is associated with a greater morbidity and mortality in Fabry disease.
Pathological albuminuria, the first Fabry nephropathy clinical manifestation, can occur from early childhood, although histological lesions such as tubulo-interstitial fibrosis and glomerulosclerosis are present or may precede the onset of pathological albuminuria.
In renal cells, exposure to Lyso-Gb3 is correlated with increased expression of Transforming Growth Factor-βeta (TGF-β).
miR-21, miR-192, and miR-433 that promote fibrosis are activated by TGF-β, and miR-29 and miR-200 that suppress fibrosis are inhibited by TGF-β.
A 23-year-old male was diagnosed with FD.
αGalA decreased enzyme activity: 0.1 nmol/hour/liter; genotype: [c.317T>G (p.L106R)]; GFR: 104.4 mL/min/m2; urinary albumin excretion: 6.00 mg/day; plasma Lyso-Gb3: 124.5 nmol/L.
A decrease urinary excretion of miR-29 and miR-200 was found (p <0.005) compared to controls.
In addition to its usefulness as a phenotype marker, Lyso-Gb3 has been proposed as an indicator of therapeutic response.
We detect an association of high Lyso-Gb3 plasma values with decreased urinary excretion of miRNAs with known antifibrotic effect (miR-29 and miR-200).
Although the present work is a case report, it could be hypothesized that one of the harmful Lyso-Gb3 effects could be the miRNAs regulation through changes in TGF-β expression.
American Psychological Association (APA)
Jaurretche, Sebastián& Perez, Germán R.& Venera, Graciela. 2019. High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease. Case Reports in Nephrology،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1141121
Modern Language Association (MLA)
Jaurretche, Sebastián…[et al.]. High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease. Case Reports in Nephrology No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1141121
American Medical Association (AMA)
Jaurretche, Sebastián& Perez, Germán R.& Venera, Graciela. High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease. Case Reports in Nephrology. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1141121
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1141121