Associated Research Group Rorbach

Mitochondrial gene expression

Mitochondria are cell organelles that are central to metabolism and have their own genetic material, mitochondrial DNA. In our research group, we investigate how the expression of mitochondrial genes is regulated.

Mitochondria house their own genetic system for the expression of thirteen oxidative phosphorylation (OxPhos) subunits encoded by the mitochondrial DNA. Dysfunction of mitochondrial gene expression can lead to human pathologies, and yet our understanding of the basic aspects of mitochondrial genetics remains limited. Our group employs genetic, proteomic and cryo-EM methods to reveal mechanisms and to identify novel factors involved in mitochondrial gene expression. This interdisciplinary approach helps us to explore a poorly-understood area of mitochondrial biology with direct relevance to human health.

The specific objectives of our research are:

  1. To characterise, both structurally and biochemically, the mechanisms of mitochondrial protein synthesis.
  2. To investigate mitoribosome biogenesis, including determining the composition and structure of assembly intermediates at different biogenesis stages and identifying novel assembly factors.
  3. To identify and characterise novel factors involved in the regulation of mitochondrial RNA metabolism and translation.
  4. To investigate how defects in mitochondrial gene expression influence human health.

[ more about our research ]

Selected publications

Human mitochondria require mtRF1 for translation termination at non-canonical stop codons
Krüger, A., Remes, C., Shiriaev, D., Liu, Y., Spåhr, H., Wibom, R.,  Atanassov, I., Cooperman, B., Rorbach, J.**
(2022) Nat Commun, in press

Mechanism of mitoribosomal small subunit biogenesis and preinitiation
Itoh, Y.*, Khawaja, A.*, Laptev, I., Cipullo, M., Atanassov, I., Sergiev, P., Rorbach, J.**, Amunts, A.**
(2022) Nature, 606, 7914, 603-608

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly
Cipullo, M., Pearce, S. F., Lopez Sanchez, I. G., Gopalakrishna, S., Kruger, A., Schober, F., Busch, J. D., Li, X., Wredenberg, A., Atanassov, I., Rorbach, J.**
(2021) Nucleic Acids Res, 49, 1, 354-370

Structural basis for late maturation steps of the human mitoribosomal large subunit
Cipullo, M.*, Gese, G. V.*, Khawaja, A., Hallberg, B. M.**, Rorbach, J.**
(2021) Nat Commun, 12, 1, 3673

Distinct pre-initiation steps in human mitochondrial translation
Khawaja, A.*, Itoh, Y.*, Remes, C., Spahr, H., Yukhnovets, O., Hofig, H., Amunts, A.**, Rorbach, J.**
(2020) Nat Commun, 11, 1, 2932

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis
Gopalakrishna, S.*, Pearce, S. F.*, Dinan, A. M., Schober, F. A., Cipullo, M., Spahr, H., Khawaja, A., Maffezzini, C., Freyer, C., Wredenberg, A., Atanassov, I., Firth, A. E., Rorbach, J.**
(2019) Nucleic Acids Res, 47, 17, 9386-9399

*equal contribution; **corresponding author


2023 - 2027 Karolinska Institute Consolidator Grant
2023 - 2024 Wallenberg Scholar
2022 - 2025 Swedish Research Council Grant
2022 - 2025 Horizon MSCA
2021 - 2024 KID Founding
2020 - 2025 Wallenberg Research Grant
‘Mitochondrial Methyltransferases -from discovery to disease’ 
2019 - 2024  Wallenberg Research Grant                                                                                                    
‘Birth of mitochondrial ribosome’ 
2019 - 2020 Wenner Gren Fellowship 
2018 - 2028 Wallenberg Academy Fellowship
2018 - 2022 CSC-KI graduate fellowship
2016 - 2019 Marie Curie International Grant
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