Promising research into ADOA(-plus) and mitochondria
In previous posts on the road to treatment, we have mainly focused on research in the United States
States highlighted. But also in the Netherlands important research is being conducted into hereditary optical
neuropathies such as ADOA and ADOA+.
We spoke to René de Coo about this, affiliated with the mitochondrial research group led by Prof. Bert Smeets and Dr. Florence van Tienen, in the Translational Genomics department at Maastricht University. There, he collaborates with a group of passionate researchers on the role of mitochondria in these conditions.
Rather than approaching ADOA as an eye disease, the focus is on how mitochondria fragment in the
optic nerve due to the genetic defect, which then leads to damage to the optic nerve and
visual loss in ADOA patients.
Mitochondria transplantation
A striking discovery is that healthy cells can produce mitochondria via so-called nanotubes
exchange with cells in which the mitochondria no longer function properly, for example due to the aforementioned
fragmentation – a kind of “rescue action” from healthy to sick cells, where the healthy cells
notice that the sick cells have too little energy.
This mechanism opens the door to therapies that use the body's own cells to transport mitochondria to damaged cells or nerves, such as the optic nerve. In Maastricht, experiments are already underway with transplanting mitochondria into patients' muscle fibers. According to René de Coo, this approach could also be promising for optic nerve cells, although thorough research is needed first.
Hearing problems and ADOA-plus
In addition, there is growing attention for hearing problems in ADOA(-plus). In combination with vision loss
Do hearing problems with ADOA-plus cause an additional reduction in quality of life?
other mitochondrial diseases with hearing loss, research has shown that
The problem is not always with the ear, but with the processing of sound signals in the brain.
For example, some patients hear a fire truck with sirens passing by, but their
The brain is unable to process this as meaningful information due to mitochondrial disease.
processing.
This has never been investigated before at ADOA-plus. To determine whether hearing loss is caused
due to disturbed signal processing in the brain or due to actual hearing damage, there is broader
diagnostics are necessary – for example MRI scans of the auditory cortex.
René de Coo advocates involving neurologists earlier in the diagnosis of ADOA-plus and to
standard investigation to be expanded in case of atypical symptoms. ADOA-plus may not be
isolated condition, but part of a broader (mitochondrial) disorder, in which
other genes may also play a role.
With these new insights, it is hoped that within a few years we will be able to diagnose more specifically and
treatment. There is still much to discover, but the first steps are promising.
