GenSight – mitochondrial diseases

GenSight – MTS: Mechanism of Action Animation

Mitochondria produce the energy necessary for the cell to function properly. Mutations in mitochondrial DNA disrupt this process, negatively affecting the function of the cells, and as a result – of the tissues and organs comprising these cells, especially those, which require a lot of energy (e.g. muscles, heart, brain or eyes). Diseases that form as a result of these abnormalities depend on the type of mutations.

E.g. mutation in the ND4 gene leads to a disease called LHON (Leber Hereditary Optic Neuropathy), which affects vision, as the insufficient energy production leads to the death of the nerve cells sending visual information from the eyes to the brain.

Treatment of genetic mitochondrial disease has been a challenge so far, as genetic therapies target the nuclear DNA – not the mitochondrial DNA.

GenSight Biologics’ technology overcomes this challenge by, in short, delivering the correct genetic information to mitochondria using a proprietary Mitochondrial Targeting Sequence (MTS).



We believe that molecular processes are shown in the most understandable way using medical 2D animation style. 

Simplifying the look of the cell and showing only the cell’s elements which play the key part in the processes mentioned helps follow the story.

The colors of the animation have been adapted to the customer’s brand colors, which helps the animation blend into the website well.



Mitochondria are cellular compartments that possess their own genome.

Mutations in mitochondrial genes lead to a disruption in energy production within cells, which is the root cause of several diseases. The most common example is Leber Hereditary Optic Neuropathy (LHON), an inherited disease leading to blindness.

Treatment of LHON and other diseases using standard gene therapies has been a challenge, because the treatments target the nuclear DNA, and not the mitochondrial genome.

GenSight Biologics has exclusive access to a Mitochondrial Targeting Sequence platform that overcomes the limitation of conventional gene therapy approaches.

First, a functional copy of the affected gene is introduced into the nucleus using viral particles – a standard procedure for gene therapy. The introduced gene is then transcribed into messenger RNA that contains an additional proprietary Mitochondrial Targeting Sequence, or MTS. The MTS shuttles the messenger RNA to the surface of the mitochondria, where the messenger RNA is translated into a functional protein. The MTS also enables the translocation of the protein into the mitochondria, where the protein compensates for the mitochondrial defect.

Animal models expressing LHON mutations have been treated successfully using MTS technology.

The MTS signal sequence can be added to any therapeutic gene of interest, so this new technology holds great potential for the treatment of mitochondrial diseases besides LHON. Future applications of GenSight’s MTS platform may include gene therapy for diseases caused by other mutations in the mitochondrial genome, including neurodegenerative disorders.


Read more about the MTS technology here:

See more of our medical animations here.