Stichting Ushersyndroom and Usher Syndrome Ireland
finance research into USH1b
Can tears provide information that may be important for improving diagnostics and monitoring in future treatments of USH1b patients? In the pilot study “Investigating the exosome content as a novel marker for Usher syndrome 1b” Dr. Irene Vázquez Domínguez, who is working at the Radboudumc (Nijmegen, the Netherlands), will investigate tears. By doing this, she wants to assess whether there is any indications on tears that can be employed as a source of information and therefore may contribute to not only increase the current knowledge of the disease but also to allow better prediction of the development of Usher Syndrome type 1b.
This study will be mainly financed by the Usher Syndrome Foundation and partially co-financed by Usher Syndrome Ireland. If this study produces any positive results, the study of tears may lead to new strategies in USH research.
Tears are human body fluids. Tears are rich of proteins, lipoproteins and exosomes. Exosomes are small bladders which contain a wide range of molecules inside like RNA molecules. Thanks to that, exosomes are important for the communication between cells. In addition, they can be isolated from tears, which allow the study of their content.
As tears can be collected in a non-invasive way (without entering the body) from patients, they allow for easy and patient-friendly isolation of exosomes.
New biomarker for research
Biomarkers are measurable indicators that may indicate that someone is ill, predict how serious the illness will be or show whether a treatment is effective or not.
By making use of tears, the researcher Dr. Irene Vázquez Domínguez wants to find out whether biomarkers can be found that may be used to improve the diagnostics and to better predict the development of Usher Syndrome type 1b. In the long term, point-of-care tests could be developed on the basis of these biomarkers. Point-of-care tests offer care professionals the possibility to start, monitor or adjust a future development.
The MYO7A geneWe know that more than 10 genes are involved in Usher Syndrome.
This new study is focused on one of these genes, being the MYO7A gene. This gene is responsible for the production of a specific protein: Myosin, which keeps the photoreceptors (the rods and cones) of the retina alive.
Some children having mutations in the MYO7A gene do not develop retinitis pigmentosa in their childhood and puberty beside their hereditary deafness. Here we speak of non-syndromic deafness
How can this be explained and/or predicted? The answer to this question may lead to better diagnostics. Sometimes it is really difficult for the parents to cope with the uncertainty whether or not their child will develop retinitis pigmentosa (RP).
Increasing the present knowledge about the MYO7A gene is necessary for finding new biomarkers that can be used for making the diagnosis and for predicting the development. At the same time, this knowledge can also be used in monitoring after a treatment.
Isolation of exosomes
Usher Syndrome falls within the group of Retinal Dystrophy diseases (RDs). The deterioration of the eyesight is caused by the dying of retinal cells, such as the light-sensitive photoreceptors and/or the retinal pigment epithelium (RPE).
Within the retina RPE cells are responsible for the majority of the production of exosomes. Previous studies indicated that tears may be rich of RPE exosomes.
The goal of the study is to isolate exosomes from tears as well as from RPE cells. Then, the content of both will be studied. First, the control group will be compared with the material from USH1b patients. Then the information from tear derived exosomes and RPE derived exosomes will be also compared to assess if, as it was suggested before, they provide the same information. If this turns out to be successful, this study will show that exosomes can be used as a means to develop new strategies in USH research.
Finally, this study will also show whether tears can be a source for research. This would help to find an easy and patient-friendly way to isolate exosomes.
This one year study was budgeted at € 75.000, -.
Stichting Ushersyndroom (Dutch Usher syndrome Foundation) will finance this study with co-financing from Usher Syndrome Ireland.