Abstract
The mitochondrial quality control network includes several epigenetically-regulated genes involved in mitochondrial dynamics, mitophagy, and mitochondrial biogenesis under physiologic conditions. Dysregulated expression of such genes has been reported in various disease contexts, including cancer. However, their expression pattern and the possible underlying epigenetic modifications remain to be defined within plasma cell (PC) dyscrasias. Herein, we compared the mRNA expression of mitochondrial quality control genes from multiple myeloma, plasma cell leukemia patients and human myeloma cell lines (HMCLs) with healthy plasma cells; moreover, by applying the Sequenom MassARRAY EpiTYPER technology, we performed a pilot investigation of their CpG methylation status in HMCLs. Overall, the results provided indicate dysregulated expression of several mitochondrial network’s genes, and alteration of the CpG methylation profile, underscoring novel potential myeloma biomarkers deserving in-depth functional investigation in the future.
Highlights
Multiple myeloma (MM) is a complex haematological disease mostly occurring in older adults, in which plasma cells (PCs) undergo malignant transformation through a stepwise process evolving from premalignant conditions, such as monoclonal gammopathy of undetermined significance (MGUS) and smouldering multiple myeloma (SMM), to overt
An epigenetic control of genes coding for components of the mitochondrial quality control system has emerged in both pathological and physiological conditions, including cell development, aging, hypertension, and diabetic retinopathy, but very little is known about their expression pattern and the underlying regulatory mechanisms in PC dyscrasias [35,36,37,38]
We here investigated the transcription pattern and performed a focused methylation analysis, by applying the Sequenom MassARRAY EpiTYPER technology, of the CpG islands located within candidate genes involved in mitochondrial biogenesis, mitophagy, fusion, and fission to preliminarily address the epigenetic variability of these sites in MM PCs
Summary
Multiple myeloma (MM) is a complex haematological disease mostly occurring in older adults, in which plasma cells (PCs) undergo malignant transformation through a stepwise process evolving from premalignant conditions, such as monoclonal gammopathy of undetermined significance (MGUS) and smouldering multiple myeloma (SMM), to overt. An epigenetic control of genes coding for components of the mitochondrial quality control system has emerged in both pathological and physiological conditions, including cell development, aging, hypertension, and diabetic retinopathy, but very little is known about their expression pattern and the underlying regulatory mechanisms in PC dyscrasias [35,36,37,38] To this purpose, we here investigated the transcription pattern and performed a focused methylation analysis, by applying the Sequenom MassARRAY EpiTYPER technology, of the CpG islands located within candidate genes involved in mitochondrial biogenesis, mitophagy, fusion, and fission to preliminarily address the epigenetic variability of these sites in MM PCs
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