Interaction Between Mitochondrial DNA Variants and Mitochondria/Endoplasmic Reticulum Contact Sites: A Perspective Review

Caterina Vianello, Veronica Cocetta, Federico Caicci, Francesco Boldrin, Monica Montopoli, Andrea Martinuzzi, Valerio Carelli, Marta Giacomello

Research output: Contribution to journalReview articlepeer-review


Mitochondria contain their own genome, mitochondrial DNA (mtDNA), essential to support their fundamental intracellular role in ATP production and other key metabolic and homeostatic pathways. Mitochondria are highly dynamic organelles that communicate with all the other cellular compartments, through sites of high physical proximity. Among all, their crosstalk with the endoplasmic reticulum (ER) appears particularly important as its derangement is tightly implicated with several human disorders. Population-specific mtDNA variants clustered in defining the haplogroups have been shown to exacerbate or mitigate these pathological conditions. The exact mechanisms of the mtDNA background-modifying effect are not completely clear and a possible explanation is the outcome of mitochondrial efficiency on retrograde signaling to the nucleus. However, the possibility that different haplogroups shape the proximity and crosstalk between mitochondria and the ER has never been proposed neither investigated. In this study, we pose and discuss this question and provide preliminary data to answer it. Besides, we also address the possibility that single, disease-causing mtDNA point mutations may act also by reshaping organelle communication. Overall, this perspective review provides a theoretical platform for future studies on the interaction between mtDNA variants and organelle contact sites.

Original languageEnglish
Pages (from-to)1431-1443
Number of pages13
JournalDNA and Cell Biology
Issue number8
Publication statusPublished - Aug 1 2020


  • haplogroup
  • LHON disease
  • mitochondria/ER contacts
  • mtDNA

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cell Biology


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