Mitochondrial genetic diseases

Mitochondrial genetic diseases: explore dysfunctional mitochondria
and test compounds aiming to restore function

Mitochondrial diseases represent a series of – often inherited – disorders, linked by their common cause: mitochondrial dysfunction that reduces cells’ ability to produce energy.

Our MitoXpert® assays can be used to investigate the underlying mitochondrial dysfunctions associated with genetic diseases, or to evaluate therapeutics designed to restore mitochondrial function in cells from patients with these diseases.

Mitochondrial genetic diseases have a prevalence of 1/5 000 births and can be caused by mutations in the nuclear or mitochondrial genome. They affect mitochondrial function and energy production by respiratory chain. Their effects can emerge at any age – from birth to adulthood – with extremely variable symptoms involving any organ or tissue. They are thus inherently difficult to diagnose. Most typically, mitochondrial dysfunction is observed in tissues that require a high energy supply. Depending on the number of mitochondria and the organ affected, the disease can present in very different forms, sometimes affecting only one tissue (the eyes) or as multisystem disorders characterised by neurological or muscular dysfunctions.

MitoXpert® assays can investigate mitochondrial functionality in patient cells, homing in on mechanisms linked to: