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PXE Genetic Research

The Present and Future of PXE Genetic Research

In August 1999, Drs Neldner, Lindpainter and Struk held a PXE research meeting in Boston, USA to present to other researchers interested in PXE their discovery of the genetic locus of PXE on chromosome 16 and to discuss and propose the direction and the next steps for a cooperative venture in the quest for the gene and ultimately a treatment. In addition to Drs Neldner, Lindpainter and Struk also present were Dr. Charles Boyd of the Pacific Medical Centre Honolulu; Dr. Li Cai of Harvard University who will be joining the gene project at Harvard; Dr. Mark Lebwohl of Mount Sinai University, New York City; Dr. Michael Pope of the Institute of Medical Genetics, S.Wales, United Kingdom and Dr. Jouni Uitto of the Thomas Jefferson University, Philadelphia.

However, on average, there can be as many as 5,000 genes within any locus and so isolating the gene(s) which cause PXE is likely to be a long task. Finding the gene that lies at the root of PXE was quite a competitive business and four different groups of researchers almost simultaneously published the discovery of the gene, called ABC-C6 at the end of May 2000. Jouni Uitto’s Group at Jefferson University published their report on the 23rd May 2000, The Harvard Group published their report on the 26th May 2000 and two further groups in Hawaii and the Netherlands published their reports on the 2nd June 2000.

The ongoing international human genome project is designed to determine the action and function of all genes on all 23 chromosome pairs. This enormous project will require another 3 to 5 years to complete. Once completed the excitement really begins to build up as you can then go back to the specific PXE gene and learn what is supposed to happen at that site and which apparently does not in the individual with PXE. At this point, the door to the biochemical defect in PXE will begin to open (just a crack) and depending upon the availability of research funding, it will probably require several more years to discover the specific chemical cause of PXE. Then, hopefully, it will be possible to develop a “magic bullet” type of specific treatment, which will no doubt involve another large, complex and expensive project. So the long term future and direction for PXE research has been charted and is very exciting indeed but it will take time, so please be patient. Through the good offices of Dr Neldner and our friends in NAPE we will keep you posted on any new developments as they happen.