Voor het Angelman Syndroom

A Drosophila model for Angelman syndrome

This is an exiting paper that describes the generation and characteristics (‘phenotype’) of a fruit fly, which lacks the Ube3a gene (called Dube3a from Drosophila-Ube3a). Since lack of this gene causes AS, this fly could be a good model for the disease. So is this indeed the case? These AS flies show locomotive problems (reduced climbing activity), memory (but not learning) problems and have problems with the circadian clock (being able to maintain a day/night rhythm in constant darkness). So taken into account that a fly is very different from a human, the answer is clearly positive.

So what is so exciting about this finding? Probably the most interesting finding is that too much Ube3a causes malformation of wings and eyes, or even death. This allows the researchers to screen for genes or drugs that reduce this malformation. Hence, the biggest value of this paper is the outlook for the future: this fly may help us to better understand the function of Ube3a and allow us to screen for candidate drugs in a high-throughput fashion that would not be possible in mice. The obvious step would then be to translate these findings to mice and then to humans.

Authors: Yaning Wu, Francois V. Bolduc, Kimberly Bell, Tim Tully, Yanshan Fang, Amita Sehgal, and Janice A. Fischer

Journal: Proc Natl Acad Sci U S A. 2008 Aug 26;105(34):12399-404.