Mitochondrial Disease

Mitochondrial disease is a group of heterogenous disorders caused by inherited genetic defects in the mitochondrial and nuclear genomes. 

We work to better understand how mitochondrial dysfunction alters different cell types, organ systems, and the communication between them. In particular, we focus on understanding how the organism perceives and responds to stress.

We use a transdisciplinary approach to dissect and understand the role of  genetic, cellular, physiological, and psychosocial factors in disease onset and progression.
 "Variability is the law of life, and as no two faces are the same, so no two bodies are alike, ​and no two individuals
react alike and behave alike under the abnormal conditions which we know as disease" 
− Sir William Osler (1849-1919)

The MiSBIE Study
Mitochondrial Stress, Brain Imaging, and Epigenetics - The MiSBIE study aims to define the role of mitochondria in the regulation of multisystemic response to stress in humans, and to explore the underlying neural and epigenetic mechanisms. By studying patients with mtDNA disease, we aim to understand new mechanisms that contribute to mitochondrial disease onset and progression.
 Related Publications
  • The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy
    Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, 
    Turnbull DM, Picard M. Sci Rep 2016; 6:30610    PubMed   PDF   Suppl
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  • Expanding our understanding of mtDNA deletions
    Picard M, Vincent AE, Turnbull DM. Cell Metab 2016; 24(1):3-4   PubMed   PDF
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  • Disentangling (epi)genetic and environmental contributions to the m.3243A>G MELAS mutation phenotype: Phenotypic destiny in mitochondrial disease?
    Picard M, Hirano M. JAMA Neurol 2016; 73(8):923-5   PubMed   PDF

  • The rise of mitochondria in medicine
    ​    Picard M, Wallace DC, Burelle Y. Mitochondrion 2016; 30:105-16   PubMed   PDF

  • Mitochondrial functions modulate neuroendocrine, metabolic, inflammatory and transcriptional responses to psychological stress
    Picard M, McManus MJ, Gray J, Nasca C, Moffat C, Kopinsky P, Seifert E, McEwen BS, Wallace DC. PNAS 2015; 112(48):E6614-23  PubMed       PDF

  • ​Linking metabolic state and mitochondrial DNA in chronic disease, health and aging
    Picard M, Turnbull DM. Diabetes 2013; 62(3):672-8   PubMed       PDF