ADCY5 Gene Science
The ADCY5 gene encodes for adenylyl cyclase V, a member of a family of proteins responsible for generating cyclic adenosine monophosphate (cAMP) in cells. The regulation of cAMP levels is important because cAMP is a messenger that helps regulate levels of sugar and lipids in the body and mediates skeletal muscle processes. In addition, ADCY5 is highly expressed in the striatum, a region in the brain that is involved in modulating movement. A study of mice lacking the ADCY5 gene, shows that the absence of the gene causes a motor disorder similar to Parkinson’s disease. ADCY5 has been shown to be important in balancing and maintaining both coordination and locomotion and in responding to stimulation by dopamine neurotransmitters.
Rare Science and CIRM (CA Institute for Regenerative Medicine) partnered to create stem cells for 13 families affected by ADCY5 variants. Rare Science is a non-profit that helps rare disease organizations understand and leverage the latest science for their disease’s unique needs.
Rare Science won a landmark rare disease grant from CIRM to create stem cells (iPSCs) for individuals with ADCY5 mutations and their family members. This stem cell project with Rare Science and CIRM will remove the time, hassle, and expense related to generating stem cells. Researchers can now focus on the biochemistry and molecular biology of ADCY5 variants. The stem cells will be stored at the Coriell Institute and sold with NO intellectual property reach back conditions for a nominal fee to academics and researchers via the Coriell website.
Rare Science, CIRM, and ADCY5.org are truly blazing new trails in the Rare Disease world with this one-of-a-kind project.
Tara Schmidlen at CIRM has written two blog posts about the importance of biobanking and how storing samples and sharing them with the research community is benefitting Rare Disease.
ADCY5 Gene Mutation Support and Research Organization - ADCY5 International Patient Registry
Support and Research Organization
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