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inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells

Human mutation, 2009-03, Vol.30 (3), p.391-396 [Peer Reviewed Journal]

2008 Wiley‐Liss, Inc. ;2008 Wiley-Liss, Inc. ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.20870 ;PMID: 19086058

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Title:
inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells
Author: Gasparre, Giuseppe ; Iommarini, Luisa ; Porcelli, Anna Maria ; Lang, Martin ; Ferri, Gian Gaetano ; Kurelac, Ivana ; Zuntini, Roberta ; Mariani, Elisa ; Pennisi, Lucia Fiammetta ; Pasquini, Ernesto ; Pasquinelli, Gianandrea ; Ghelli, Anna ; Bonora, Elena ; Ceccarelli, Claudio ; Rugolo, Michela ; Salfi, Nunzio ; Romeo, Giovanni ; Carelli, Valerio
Subjects: Aged ; Amino Acid Sequence ; Base Sequence ; Blotting, Western ; complex I subunits ; disruptive mutations ; DNA Mutational Analysis ; DNA, Mitochondrial - chemistry ; DNA, Mitochondrial - genetics ; Electron Transport Complex I - genetics ; Electron Transport Complex I - metabolism ; Frameshift Mutation ; Germ-Line Mutation ; Humans ; Immunohistochemistry ; Male ; Microscopy, Electron ; mitochondrial DNA ; Molecular Sequence Data ; mtDNA ; Nasopharyngeal Neoplasms - genetics ; Nasopharyngeal Neoplasms - pathology ; Nasopharyngeal Neoplasms - ultrastructure ; ND1 ; ND5 ; ND6 ; oncocytic ; Pedigree ; Sequence Deletion ; Sequence Homology, Amino Acid ; Siblings
Is Part Of: Human mutation, 2009-03, Vol.30 (3), p.391-396
Description: A disruptive frameshift mtDNA mutation affecting the ND5 subunit of complex I is present in homoplasmy in a nasopharyngeal oncocytic tumor and inherited as a heteroplasmic germline mutation recurring in two of the patient's siblings. Homoplasmic ND5 mutation in the tumor correlates with lack of the ND6 subunit, suggesting complex I disassembly. A few oncocytic areas, expressing ND6 and heteroplasmic for the ND5 mutation, harbor a de novo homoplasmic ND1 mutation. Since shift to homoplasmy of ND1 and ND5 mutations occurs exclusively in tumor cells, we conclude that complex I mutations may have a selective advantage and accompany oncocytic transformation. Hum Mutat 0, 1-6, 2008.
Publisher: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Language: English
Identifier: ISSN: 1059-7794
EISSN: 1098-1004
DOI: 10.1002/humu.20870
PMID: 19086058
Source: MEDLINE
Alma/SFX Local Collection

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inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells

2008 Wiley‐Liss, Inc. ;2008 Wiley-Liss, Inc. ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.20870 ;PMID: 19086058

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