Interaction between mitochondrial DNA variants and mitochondria/endoplasmic reticulum contact sites: A perspective review: DNA and Cell Biology

C. Vianello, V. Cocetta, F. Caicci, F. Boldrin, M. Montopoli, A. Martinuzzi, V. Carelli, M. Giacomello

Research output: Contribution to journalArticlepeer-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. © Copyright 2020, Mary Ann Liebert, Inc., publishers 2020.
Original languageEnglish
Pages (from-to)1431-1443
Number of pages13
JournalDNA Cell Biol.
Issue number8
Publication statusPublished - 2020


  • haplogroup
  • LHON disease
  • mitochondria/ER contacts
  • mtDNA
  • cell nucleus DNA
  • mitochondrial DNA
  • reactive oxygen metabolite
  • adenosine triphosphate
  • Article
  • cell communication
  • disease course
  • disease predisposition
  • DNA sequencing
  • endoplasmic reticulum
  • gene interaction
  • genetic association
  • genetic variability
  • human
  • mitochondrial haplogroup
  • nonhuman
  • point mutation
  • priority journal
  • retina ganglion cell
  • disorders of mitochondrial functions
  • genetics
  • metabolism
  • mitochondrial genome
  • mitochondrion
  • pathology
  • Adenosine Triphosphate
  • DNA, Mitochondrial
  • Endoplasmic Reticulum
  • Genome, Mitochondrial
  • Humans
  • Mitochondria
  • Mitochondrial Diseases


Dive into the research topics of 'Interaction between mitochondrial DNA variants and mitochondria/endoplasmic reticulum contact sites: A perspective review: DNA and Cell Biology'. Together they form a unique fingerprint.

Cite this