Group Kallijärvi

Experimental Studies of Neonatal Mitochondrial Diseases

The rationale of this project is the clinical need to clarify pathophysiological mechanisms of mitochondrial disorders and to develop treatment strategies for the benefit of patients.

Mutations in the mitochondrial assembly factor BCS1L are the most common cause of respiratory chain complex III deficiency, the most severe of them being the neonatal lethal GRACILE syndrome. These patients have hepatopathy, tubulopathy and lactic acidosis at birth, but no signs of encephalopathy possible due to short life span. Knock-in mice generated by prof. Fellman’s group and harboring the human patient mutation display growth failure and progressive liver disorder from the fourth week of age, tubulopathy and short life span. The mice have a disease-free postnatal period until 4 weeks of age, which gives an excellent time window to perform interventions at presymptomatic stage. We utilize this mouse model in studies of disease mechanism and in interventional studies. These include pharmacological treatments and gene therapy (transgenic alternative oxidase, wild-type Bcs1l, hepatocyte transplantation). Promising beneficial effects are emerging from gene therapy.

We have expertise in the following methods: mouse phenotyping, respirometry of mitochondria, blue native PAGE, respiratory chain complex III activity, metabolic assessments (CLAMs, metabolomics, transcriptomics), cardiac investigations on mice (echocardiography, blood pressure measurements). Moreover, we use Drosophila as a model organism in mechanistic studies.

Read more

Postdoctoral Researchers

Janne Purhonen, Ph.D.
Christa Kietz, Ph.D.

Graduate Students

Rishi Banerjee, M.Sci.
Divya Upadhyay, M.Sci.


Vilma Wanne, M.Sci., Laboratory Coordinator

Quantification of UDP-GlcNAc using an enzymatic microplate method.
Upadhyay D, Banerjee R, Kallijärvi J, Purhonen J. STAR Protocols. 2024.

Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription.
Purhonen J, Hofer A, Kallijärvi J. Nucleic Acids Research. 2024.

MYC – an emerging player in mitochondrial diseases.
Purhonen J, Klefström J, Kallijärvi J. Frontiers in Cell and Developmental Biology. 2023.

Enzymatic assay for UDP-GlcNAc and its application in the parallel assessment of substrate availability and protein O-GlcNAcylation.
Sunden M, Upadhyay D, Banerjee R, Sipari N, Fellman V, Kallijärvi J, Purhonen J. Cell Reports Methods. 2023.

Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.
Purhonen J, Banerjee R, Wanne V, Sipari N, Mörgelin M, Fellman V, Kallijärvi J. Nature Communications. 2023.

The Finnish genetic heritage in 2022: from diagnosis to translational research.
Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. Disease Models & Mechanisms. 2022.

The mitochondrial coenzyme Q junction and complex III: biochemistry and pathophysiology.
Banerjee R, Purhonen J, Kallijärvi J. FEBS Journal. 2022.

A sensitive assay for dNTPs based on long synthetic oligonucleotides, EvaGreen dye, and inhibitor-resistant high-fidelity DNA polymerase.
Purhonen, J, Banerjee Rishi, McDonald A, Fellman V, Kallijärvi J. Nuclei Acids Research. 2020.

A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice.
Purhonen J, Grigorjev V, Ekiert R, Aho N, Rajendran J, Pietras R, Truvé K, Wikström M, Sharma V, Osyczka A, Fellman V, Kallijärvi J. Nature Communications. 2020.

Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy.
Rajendran J, Purhonen J, Tegelberg S, Smolander O-P, Mörgelin M, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Auvinen P, Mervaala E, Jacobs HT, Szibor M, Fellman V, Kallijärvi J. EMBO Molecular Medicine. 2019.

Prof. Ildiko Szabo, University of Padova, Italy

Dr. Luis Garcia Lopez, University of Granada, Spain

Dr. Nina Sipari, University of Helsinki, Viikki Metabolomics Unit

Dr. Matthias Mörgelin, Division of Infection Medicine, Clinical Sciences, LU

Dr./MD Pirjo Isohanni, Children’s Hospital, Helsinki, Finland

Dr./MD Risto Lapatto, Children’s Hospital, Helsinki, Finland

Prof. Artur Osyczka, Jagiellonian University, Krakow, Poland

Dr. Leah Biggs, University of Helsinki, Finland

Dr. Satu Kuure, University of Helsinki, Finland

Samfundet Folkhälsan

Finska Läkaresällskapet

Foundation for Pediatric Research in Finland

Liv-o-Hälsa Foundation

Magnus Ehrnrooth Foundation

Jane and Aatos Erkko Foundation

Stem Cells and Metabolism Research Program, University of Helsinki


    • Jukka Kallijärvi

      PhD, Docent, Group Leader

    • Tel:
      +358 50 448 7006

    • Contact
    • Vineta Fellman

      MD, PhD, Professor Emerita

    • Tel:
      +358 40 562 2666

    • Contact