November’s Norrie Disease Research Update at UCL GOSH
by Dale Bryant, 30th November 2017.
Norrie disease is caused by mutations in the NDP gene. The NDP gene provides the instructions for making a protein called Norrin. When there is a problem with these instructions, Norrin is not made correctly so it is unable to carry out its job. To monitor Norrin in the laboratory, we use antibodies that have been specifically made to bind to Norrin. With additional tools we are able to observe these antibodies and use this information to investigate Norrin protein.
This month, we have been testing different antibodies to see which one is best at detecting Norrin in our samples. This is because some antibodies are better than others and we want to use the best one in our experiments. Certain antibodies also require specific conditions to be effective. Therefore, we have also tried different methods to see which one provides the clearest results.
We will use the observations of these studies to monitor Norrin in future experiments. Each genetic mutation that causes Norrie disease may disrupt the instructions for making Norrin in its own way. Therefore, understanding how the Norrin protein has been disrupted by these mutations is an important part of many experiments that we do.