2016 Innsbruck Research Meeting

This article first appeared in the June, 2016 eNewsletter.

Poster titled Characterization of PXE Phenotype

The 6th Special Meeting for ATP-Binding Cassette (ABC) Proteins took place in Innsbruck, Austria from March 5th through March 11th, 2016. PXE International CEO Sharon Terry, staff members Christine Vocke and Jannat Gill, and PXE International Board President Patrick Terry attended the meeting. Over the years, presentations at this meeting have catalyzed amazing advances for pseudoxanthoma elasticum (PXE) research. Mutations in the gene associated with PXE, ABCC6, cause a malfunction in an ABC protein, ABCC6. Thus, this ABC Protein meeting is the place for us to be! Researchers working on ABC proteins from around the world attend this meeting, presenting their research and discussing methods to further improve their investigations. Since PXE International is one of the sponsors of this meeting, a keynote lecture specifically on PXE is always presented at the meeting, and sometimes we sponsor whole sessions. These opportunities put PXE in the limelight, stimulating both new and seasoned researchers studying PXE. Many researchers who collaborate with PXE International attend this meeting.

Each day includes a symposium, a workshop, and short talks on ABC proteins. Poster sessions took place March 7 and March 9. PXE International presented a poster entitled “The Natural History of Pseudoxanthoma Elasticum." This poster described the variety of signs and symptoms PXEers experience as PXE progresses. PXE researchers also presented posters at the meeting. Koen van de Wetering, PhD, and András Váradi, PhD, each presented two joint posters. One poster was entitled “Pyrophosphate as the suitable biomarker for various models of soft tissue calcification” and the other “4-Phenylbutyrate reduces calcification in mice expressing human ABCC6 mutants: a preclinical in vivo model for allele-specific therapy of PXE and GACI.” Koen van de Wetering also gave an invited presentation on “ATP-binding Cassette Sub-family C Member 5 (ABCC5) Functions as an Efflux Transporter of Glutamate Conjugates and Analogs”. During his talk, he mentioned his work on PXE. The keynote plenary lecture was presented on March 8th by Piet Borst, MD, PhD, who has been involved in PXE research since the 2008 ABC Special Meeting. At that meeting, a talk presented by Lionel Bercovitch, MD, PXE International’s Medical Director, led him to think and hypothesize about the substrate in PXE. Dr. Borst discussed how his lab, now led by Dr. van de Wetering, solved the mystery of why the absence of ABCC6 in the liver leads to PXE. The meeting was a success for the cause of PXE research, because the talks by Drs. Borst and van de Wetering clearly demonstrated the progress and increasing understanding of the paths and triggers of the ABCC6 mutations in PXE.


Patrick and Sharon Terry, Jannat Gill, Christine and Robert Vocke at the 2016 Innsbruck Meeting