Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids

Peter Seibel, Chiara Di Nunno, Christian Kukat, Ingo Schäfer, Roberto Del Bo, Andreina Bordoni, Giacomo P. Comi, Astrid Schön, Ferdinando Capuano, Dominga Latorre, Gaetano Villani

Research output: Contribution to journalArticlepeer-review

Abstract

Ever increasing evidence has been provided on the accumulation of mutations in the mitochondrial DNA (mtDNA) during the aging process. However, the lack of direct functional consequences of the mutant mtDNA load on the mitochondria-dependent cell metabolism has raised many questions on the physiological importance of the age-related mtDNA variations. In the present work, we have analyzed the bioenergetic properties associated with the age-related T414G mutation of the mtDNA control region in transmitochondrial cybrids. The results show that the T414G mutation does not cause per se any detectable bioenergetic change. Moreover, three mtDNA mutations clustered in the 16S ribosomal RNA gene cosegregated together with the T414G in the same cybrid cell line. Two of them, namely T1843C and A1940G, are novel and associate with a negative bioenergetic phenotype. The results are discussed in the more general context of the complex heterogeneity and the dramatic instability of the mitochondrial genome during cell culture of transmitochondrial cybrids.

Original languageEnglish
Pages (from-to)5872-5881
Number of pages10
JournalNucleic Acids Research
Volume36
Issue number18
DOIs
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Genetics

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