학술논문
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
Document Type
Article
Author
Migliavacca, Maddalena; Basso Ricci, Luca; Farinelli, Giada; Calbi, Valeria; Tucci, Francesca; Barzaghi, Federica; Ferrua, Francesca; Cicalese, Maria Pia; Darin, Silvia; Barzaghi, Lina Raffaella; Giglio, Fabio; Peccatori, Jacopo; Fumagalli, Francesca; Nicoletti, Roberto; Giannelli, Stefania; Sartirana, Claudia; Bandiera, Alessandro; Esposito, Maria; Milani, Raffaella; Mazzi, Benedetta
Source
Subject
*CHRONIC granulomatous disease
*HEMATOPOIETIC stem cell transplantation
*MITOCHONDRIAL pathology
*MITOCHONDRIA
*PHAGOCYTES
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Language
ISSN
0271-9142
Abstract
X-linked chronic granulomatous disease is a rare disease caused by mutations in the CYBB gene. While more extensive knowledge is available on genetics, pathogenesis, and possible therapeutic options, mitochondrial activity and its implications on patient monitoring are still not well-characterized. We have developed a novel protocol to study mitochondrial activity on whole blood of XCGD patients before and after transplantation, as well as on XCGD carriers. Here we present results of these analyses and of the restoration of mitochondrial activity in hyperinflamed X-linked Chronic Granulomatous Disease after hematopoietic stem cell transplantation. Moreover, we show a strong direct correlation between mitochondrial activity, chimerism, and DHR monitored before and after transplantation and in XCGD carriers. In conclusion, based on these findings, we suggest testing this new ready-to-use marker to better characterize patients before and after treatment and to investigate disease expression in carriers. [ABSTRACT FROM AUTHOR]