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Updated: Jan 21, 2026
In Vivo Gene Transfer to the Rabbit Common Carotid Artery Endothelium
Published on: May 6, 2018
[Novel Genes Associated with the Development of Carotid Paragangliomas]
A V Snezhkina1,2, E N Lukyanova1, M S Fedorova1
1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia.
Abstract:
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors of the head and neck. "Germline" and somatic mutations in a number of genes were shown to be associated with the development of CPGLs; however, molecular mechanisms of the tumor pathogenesis have not been fully understood. In the work, we have used whole exome sequencing data of 52 CPGLs obtained earlier. Using MutSigCV, the search for genes with high mutation rate was performed. Thirty four genes (MADCAM1, SARM1, ZFPM1, CTDSP2, DSPP, POTED, ANP32B, FRG2B, BAGE3, CCDC89, ACOT2, KRTAP10-1, ATXN1, GXYLT1, MUC2, AQP7, TMPRSS13, KRTAP4-3, PRR21, PSPH, PLBD1, ZNF595, IGSF3, PRR16, FAM157A, KCNJ12, HYDIN, IGFBP2, KIAA1671, DISC1, MUC6, XKR3, HRNR, and MUC4) potentially associated with the CPGL initiation and progression were revealed. The involvement of these genes in the pathogenesis of CPGLs was first shown, and possible mechanisms of their participation in that were discussed.
Insights
Researchers identified 34 genes potentially linked to carotid paraganglioma (CPGL) development. This study sheds light on the molecular mechanisms driving these rare neuroendocrine tumors.
Area of Science:
- Oncology
- Genetics
- Neuroendocrinology
Background:
- Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors originating in the head and neck.
- While genetic mutations are implicated, the precise molecular pathogenesis of CPGLs remains incompletely understood.
Purpose of the Study:
- To identify novel genes associated with CPGL initiation and progression.
- To elucidate potential molecular mechanisms underlying CPGL pathogenesis.
Main Methods:
- Whole exome sequencing data from 52 CPGLs were analyzed.
- MutSigCV was employed to detect genes with significantly high mutation rates.
Main Results:
- Thirty-four genes, including MADCAM1, SARM1, ZFPM1, and MUC4, were identified as potentially associated with CPGLs.
- This research presents the first evidence linking these specific genes to CPGL pathogenesis.
Conclusions:
- The study highlights 34 candidate genes involved in CPGL development.
- Further investigation into these genes may reveal novel therapeutic targets and deepen our understanding of CPGL tumorigenesis.
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