Article
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.
Cells - 28 Oct 2021
De Luise Monica, Iommarini Luisa, Marchio Lorena, Tedesco Greta, Coadă Camelia Alexandra, Repaci Andrea, Turchetti Daniela, Tardio Maria Lucia, Salfi Nunzio, Pagotto Uberto, Kurelac Ivana, Porcelli Anna Maria, Gasparre Giuseppe
Abstract excerpt
While somatic disruptive mitochondrial DNA (mtDNA) mutations that severely affect the respiratory chain are counter-selected in most human neoplasms, they are the genetic hallmark of indolent oncocytomas, where they appear to contribute to reduce tumorigenic potential. A correlation between mtDNA mutation type and load, and the clinical outcome of a tumor, corroborated by functional studies, is currently lacking....
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