Sunday, July 12, 2020

Note to blog readers

Dear readers,

I am writing to acknowledge that there are a large number of Drosophila disease-related studies that have been published in recent years but are not included here. I have not been able to keep up with the fast pace at which the relevant literature accumulates.

I recommend using an online resource such as PubMed or Google Scholar to identify the most recent relevant literature. In addition, the FlyBase database maintains information about Drosophila models of human diseases (see for example the "human diseases" tab in the QuickSearch section).

I welcome feedback on the site and the direction it might take in the future.

Kind regards,
Stephanie

New fly model related to cystic fibrosis

Kim K, Lane EA, Saftien A, Wang H, Xu Y, Wirtz-Peitz F, Perrimon N. Drosophila as a model for studying cystic fibrosis pathophysiology of the gastrointestinal system. Proc Natl Acad Sci U S A. 2020 May 12;117(19):10357-10367. doi: 10.1073/pnas.1913127117. Epub 2020 Apr 28. PMID: 32345720; PMCID: PMC7229672.

Abstract: "Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The most common symptoms include progressive lung disease and chronic digestive conditions. CF is the first human genetic disease to benefit from having five different species of animal models. Despite the phenotypic differences among the animal models and human CF, these models have provided invaluable insight into understanding disease mechanisms at the organ-system level. Here, we identify a member of the ABCC4 family, CG5789, that has the structural and functional properties expected for encoding the Drosophila equivalent of human CFTR, and thus refer to it as Drosophila CFTR (Dmel\CFTR). We show that knockdown of Dmel\CFTR in the adult intestine disrupts osmotic homeostasis and displays CF-like phenotypes that lead to intestinal stem cell hyperplasia. We also show that expression of wild-type human CFTR, but not mutant variants of CFTR that prevent plasma membrane expression, rescues the mutant phenotypes of Dmel\CFTR Furthermore, we performed RNA sequencing (RNA-Seq)-based transcriptomic analysis using Dmel\CFTR fly intestine and identified a mucin gene, Muc68D, which is required for proper intestinal barrier protection. Altogether, our findings suggest that Drosophila can be a powerful model organism for studying CF pathophysiology."