Benchside diagnostics for mitochondrial diseases

Invention: Novel biomarkers and their combination for diagnosis of mitochondrial disorders.
Indication: Mitochondrial disorders.
Unmet need: Disease diagnosis and treatment adjustment.
IP Status: Patent pending.
Project phase: Partnering for further kit development.

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Mitochondrial disorders (MDs) are the most common group of inherited metabolic multi-organ diseases. MD patients show exceptional clinical variability yet commonly present with neurological or muscular symptoms. Globally, MDs account for 1 in 2–5000 births, and treatment options are extremely limited. Diagnosis of MDs is both challenging and time consuming: it may start with genetic testing of a pathogenic mtDNA variant, and frequently necessitates many subsequent approaches such as neuroimaging, cardiac evaluation, genetic testing for a nuclear gene pathogenetic variant, and muscle biopsy to name a few. Thus, there is a significant unmet need for effective, specific, rapid and sensitive methods for diagnosing MDs in the clinic to determine if a patient has an increased risk for a mitochondrial disorder.

Anu Suomalainen-Wartiovaara
Faculty of Medicine, University of Helsinki


Buzkova, J. et al. Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers (2018) EMBO Molecular Medicine.