eNews September 2012
September 19, 2012
Volume 5, No. 8
PXE - Can Diet Help?
New Webinar October 3 at 1:00 PM Eastern
with Dr. Jouni Uitto, MD, PhD, Jefferson Medical College
Pseudoxanthoma elasticum [PXE] is caused by mutations in the ABCC6 gene, and as a rule, the mutations within each family are the same. However, for reasons that are currently unclear, members of the same family can have quite variable signs and symptoms. Lifestyle differences, including dietary factors, may contribute to the variable disease severity in different individuals. In particular, one early study suggested that individuals with a history of high intake of dairy products, rich in calcium and phosphate, during adolescence developed more severe disease later in life, suggesting that modification of diet may help in lessening the clinical signs and symptoms of PXE.
The PXE knockout mouse is genetically engineered to have non-functioning ABCC6 genes. These transgenic mice develop mineralization that mimics the features of PXE in humans, and serve as a preclinical platform to test various treatments for PXE. Recent studies completed under controlled environmental conditions have shown that the magnesium, but not calcium, content of the diet can influence the extent of mineralization in peripheral tissues in the PXE mouse model. Specifically, supplementation of the mouse diet with magnesium in amounts that increased the magnesium content by 5-fold over the standard diet, completely abolished the mineralization noted in these mice when kept on a standard diet. Conversely, the experimental diet with low magnesium was shown to accelerate the mineralization process. These findings support the notion that changes in the diet, and specifically changes in dietary magnesium, might be helpful for patients with PXE.
Join Dr. Uitto for this very informative webinar on dietary intervention in PXE!
My Bucket List
By Jessica Harper
“While I mayhave no serious bucket list of my own, I am the self-appointed cheerleader of a couple of people who do...”
7th European Elastin Meeting, Ghent, Belgium
September 1-4, 2012
Researchers from all over the world met in Het Pand in the city center of Ghent this month for the 7th European Elastin Meeting. This terrific meeting was organized by Dr. Anne DePaepe . The program gave broad coverage of the current progress and controversies in the structure and biology of elastin as well as in diseases of elastic fibers. Presentations related to PXE were given by researchers Olivier Vanakker [Ghent University, Belgium], "BMP-signalling in pseudoxanthoma elasticum"; Georges Leftheriotis [University of Angers, France], "The vascular phenotype in pseudoxanthoma elasticum and related disorders"; and Mohamed Hosen [Ghent University], "Comprehensive characterization of a zebrafish model for pseudoxanthoma elasticum". Sharon Terry spoke in a session facilitated by Daniela Quaglino : "Taking research forward: role of patient and health advocacy organizations."
On September 5, individuals affected by pseudoxanthoma elasticum (PXE) from all over Belgium (and a few from the Netherlands) came together for a four-hour meeting. Approximately 60 people attended. Dr. Olivier Vanakker organized a very informative meeting. He presented on current findings in PXE research, including a discussion of the clinical signs and symptoms. Dr. Devlider spoke about the eye manifestations and the use of antiangiogenesis agents in their treatment. Dr. Campens spoke about vascular problems in PXE. Sharon Terry shared the story of PXE International successfully promoting research, and supporting laboratories like that of Dr. DePaepe. The work of Dr. Hosen was presented on the zebrafish and mice.
Combined Federal Campaign
of the National Capital Area (CFCNCA)
Select PXE International #95502
To our friends who are federal employees in the National Capital Area, help us conduct and support research that will tame PXE! Select PXE International, #95502. Download a PXE CFCNCA flyer from our website and ask your coworkers to support PXE International.