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. 2019 Feb 14;9(1):2139.
doi: 10.1038/s41598-018-38025-0.

PDGF-BB serum levels are decreased in adult onset Pompe patients

Esther Fernández-Simón  1 , Ana Carrasco-Rozas  1 , Eduard Gallardo  1   2 , Sebastián Figueroa-Bonaparte  1 , Izaskun Belmonte  3 , Irene Pedrosa  3 , Elena Montiel  3 , Xavier Suárez-Calvet  1   2 , Jorge Alonso-Pérez  1 , Sonia Segovia  1   2 , Claudia Nuñez-Peralta  4 , Jaume Llauger  4 , Mercedes Mayos  5 , Isabel Illa  1   2 ; Spanish Pompe Study Group; Jordi Díaz-Manera  6
Collaborators, Affiliations

PDGF-BB serum levels are decreased in adult onset Pompe patients

Esther Fernández-Simón et al. Sci Rep. .

Abstract

Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. Motor functional tests and spirometry are commonly used to follow patients up. However, a serological biomarker that correlates with the progression of the disease could improve follow-up. We studied serum concentrations of TGFβ, PDGF-BB, PDGF-AA and CTGF growth factors in 37 adult onset Pompe patients and 45 controls. Moreover, all patients performed several muscle function tests, conventional spirometry, and quantitative muscle MRI using 3-point Dixon. We observed a statistically significant change in the serum concentration of each growth factor in patients compared to controls. However, only PDGF-BB levels were able to differentiate between asymptomatic and symptomatic patients, suggesting its potential role in the follow-up of asymptomatic patients. Moreover, our results point to a dysregulation of muscle regeneration as an additional pathomechanism of Pompe disease.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Serum levels of different cytokines in control group and pompe group. (A) PDGF-BB levels, (B) TGF-β1, (C) PDGF-AA and (D) CTGF levels were measured. Variables are represented as median and interquartile range (IQR). Statistical significance of the results by Mann-Whitney test: *p ≤ 0.05 and **p ≤ 0.01.
Figure 2
Figure 2
Serological levels of four growth factors in three different groups: control, symptomatic Pompe patients and asymptomatic Pompe patients. (A) PDGF-BB levels, (B) TGF-β1, (C) PDGF-AA and (D) CTGF levels were measured. Variables are represented as median and interquartile range (IQR). Comparisons were made using Mann-Whitney test. Statistical significance of the results; *p ≤ 0.05 and **p ≤ 0.01.
Figure 3
Figure 3
Serological levels of PDGF-BB in different groups: control, young controls, asymptomatic and symptomatic Pompe patients. Variables are represented as median and interquartile range (IQR). Comparisons were made using Mann-Whitney test. Statistical significance of the results; *p ≤ 0.05 and **p ≤ 0.01.
Figure 4
Figure 4
Receiver-operator characteristic (ROC) curve of the PDGF-BB for distinguishing symptomatic and asymptomatic patients. The area under the curve (AUC) for PDGF-BB was 0.737 with a P value of 0.042 and 95% confidence interval (CI) were 0.539–0.935).
Figure 5
Figure 5
Serum levels PDGF-BB in muscle dystrophies: Pompe, Duchenne muscle dystrophy (DMD), Becker muscle dystrophy (BMD), dysferlinopathy (DYSF) and facioscapulohumeral muscular dystrophy (FSH). Variables are represented as median and interquartile range (IQR). Statistical significance of the results by Mann-Whitney test: *p ≤ 0.05, **p ≤ 0.01and ***p ≤ 0.001.
See this image and copyright information in PMC

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