The sleep-wake rhythm is strongly controlled by light. The retina sends signals to the pineal gland in the brains to make the sleeping hormone melatonin when the light intensity decreases. It is known that a decrease of the light perception can disturb this system. However:
- Many people suffering from Usher Syndrome or people suffering from RP record sleeping problems.
- The most frequently mutated RP gene (USH2A) is also highly expressed in the pineal gland of animal models.
- Zebrafishes with mutations in USH2A show a deviating rhythm of sleep-wake behaviour, while with these test animals hardly show any retina degeneration.
The objective of this project is to create a scientific basis for the recognition of sleeping problems with people suffering from Usher Syndrome in order to be able to find the correct treatment and improve their quality of life.
The study consists of two parts: 1) patient-related research to get a more detailed overview of the sleeping problems of RP patients, and 2) studies with zebrafish models to gain more insight into the retina-independent role of Usher proteins in regulating the sleep-wake rhythm. As mutations in USH2A may lead to Usher Syndrome or RP without any hearing problems, in both parts we make a distinction between syndromic and non-syndromic USH2A-related RP.
The following research institutes are involved in this project:
- Radboudumc: Erwin van Wijk, Erik de Vrieze, Ronald Pennings, Carel Hoyn
- Sleep/Wake centre SEIN: Karin van Rijn
- Hospital Gelderse Vallei: Myrthe Boss
- Radboud University: Juriaan Metz, Gert Flik
- Donders Institute: Martin Dressler
The amount required for this study is € 250.000,-