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08.05.2018 | Original Article

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease

verfasst von: Giselli Scaini, Tássia Tonon, Carolina F. Moura de Souza, Patricia F. Schuck, Gustavo C. Ferreira, João Quevedo, João Seda Neto, Tatiana Amorim, Jose S. Camelo Jr, Ana Vitoria Barban Margutti, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Raquel Boy, Paula F. V. de Medeiros, Ida Vanessa D. Schwartz, Emilio Luiz Streck

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 4/2018

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Abstract

Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology of MSUD. However, these studies have mainly focused on single or small subsets of proteins or molecules. Here we performed a case-control study, including 12 treated-MSUD patients, in order to investigate the plasmatic biomarkers of inflammation, to help to establish a possible relationship between these biomarkers and the disease. Our results showed that MSUD patients in treatment with restricted protein diets have high levels of pro-inflammatory cytokines [IFN-γ, TNF-α, IL-1β and IL-6] and cell adhesion molecules [sICAM-1 and sVCAM-1] compared to the control group. However, no significant alterations were found in the levels of IL-2, IL-4, IL-5, IL-7, IL-8, and IL-10 between healthy controls and MSUD patients. Moreover, we found a positive correlation between number of metabolic crisis and IL-1β levels and sICAM-1 in MSUD patients. In conclusion, our findings in plasma of patients with MSUD suggest that inflammation may play an important role in the pathogenesis of MSUD, although this process is not directly associated with BCAA blood levels. Overall, data reported here are consistent with the working hypothesis that inflammation may be involved in the pathophysiological mechanism underlying the brain damage observed in MSUD patients.

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Titel: Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease
verfasst von: Giselli Scaini
Tássia Tonon
Carolina F. Moura de Souza
Patricia F. Schuck
Gustavo C. Ferreira
João Quevedo
João Seda Neto
Tatiana Amorim
Jose S. Camelo Jr
Ana Vitoria Barban Margutti
Rafael Hencke Tresbach
Fernanda Sperb-Ludwig
Raquel Boy
Paula F. V. de Medeiros
Ida Vanessa D. Schwartz
Emilio Luiz Streck
Publikationsdatum: 08.05.2018
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 4/2018
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-018-0188-x

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Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease

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