Project description:We performed gene expression profiling analysis using data obtained from RNA-seq of two pheochromocytoma samples carrying co-occurrent mutations in NF1 and DLST. The main goal of this project was to to gain insight into the role of these events in tumour development.
Project description:Genome wide DNA methylation profiling of a pheochromocytoma sample carrying co-ocurrent mutations in NF1 and DLST. The Illumina Infinium EPIC Human DNA methylation Beadchip v1.2 was used to obtain a DNA methylation profile across approximately 850,000 CpGs. The main goal of this project was to gain insight into the role of these events in tumour development.
Project description:We performed gene expression profiling analysis using data obtained from RNA-seq of a paraganglioma sample carrying the DLST-p.Y422C mutation. The main goal of this project was to find specific gene expression profiles associated to the presence of mutations in the DLST gene of pheochromocytomas/paragangliomas.
Project description:Genome wide DNA methylation profiling of a paraganglioma sample carrying the DLST-p.Y422C mutation. The Illumina Infinium EPIC Human DNA methylation Beadchip v1.2 was used to obtain a DNA methylation profile across approximately 850,000 CpGs. The main goal of this project was to find specific methylation profiles associated to the presence of mutations in the DLST gene of pheochromocytomas/paragangliomas.
Project description:Using stable cell lines, we found that succinylation levels were highly dependent on DLST. Furthermore, PPGL-causing DLST mutations, predicted to alter DLST homo-oligomeric complex structure, caused a significant remodeling of the cellular succinylome. Succinylation is thought to cause major chemical and structural changes in proteins, most likely influencing their function. Accordingly, we found that the dysregulation of succinylation appeared to influence several essential pathways related to PPGL development such as hypoxia, glycolysis and oxidative phosphorylation. This study points to succinylation as a new mechanism involved in the development of PPGLs, supporting the growing body of research highlighting the role of this PTM in different types of cancer.
Project description:Genome wide DNA methylation profiling of pheochromocytoma/paraganglioma samples carrying different mutations. The Illumina Infinium EPIC Human DNA methylation Beadchip was used to obtain DNA methylation profiles.