-by Linda Austin

Alfred Nobel was a scientist, inventor and entrepreneur with factories and laboratories in over 90 locations in 20 countries as well as 355 patents in his name. Although he is known for inventing a method of turning highly volatile nitroglycerine into the more stable dynamite, perhaps his most famous contribution was establishment of the Nobel Foundation. This organization awards annual prizes for outstanding work in physics, chemistry, medicine/physiology, literature and for peace.

The 2007 Nobel winners were announced in October. Of particular interest to NAPE was the award for medicine/physiology given to Martin Evans of Cardiff University in Wales, Mario Capecchi of the University of Utah and Oliver Smithies of the University of North Carolina at Chapel Hill. Their work was chosen over new research in cancer and aging and over the discovery of genetic fingerprinting. The Nobel Committee stated that the work of these men “has revolutionized life science and plays a key role in the development of medical therapy.”

Martin Evans, considered the “father of embryonic stem cell research,” isolated stem cells from mouse embryos so that the genetic material could be modified with the help of viruses and used as a vehicle to introduce new genes that would be inherited by offspring. Mario Capecchi and Oliver Smithies, meanwhile, had each separately determined that introducing specific corrective DNA into a cell with a defective gene could result in a “repair” of the defective gene. But, in order for this repair to be inherited, a certain type of cell—the embryonic stem cell—had to be used. These scientists developed methods to deactivate (knock out) specific genes within an organism or to replace them with altered forms. This is called “gene targeting.” And, only gene manipulations using embryonic stem cells could be passed down to descendants of the organism.

And what does this Nobel prize have to do with PXE? Being able to “knock out” the functioning of a specific gene within a mouse allows researchers to study that gene in great detail. Mice that have been genetically altered to exhibit characteristics of a certain disorder, such as PXE, and which can produce offspring with the same genetic alteration, provide opportunity to gain understanding with the potential to test treatments…an exciting development indeed for researchers and patients!

Since the 1980’s when the first results of this type of research were reported, over five hundred different knockout mouse models of human disorders have been created for medical studies, including two mouse models developed to study the PXE ABCC6 gene. NAPE will now fund the design of another highly specialized, genetically altered mouse for PXE research proposed by Dr. Berthold Struk. Struk, whose early genetic research led to the identification of the PXE ABCC6 gene, has continued to study the genetics of PXE and believes this ABCC6 mouse model will move us closer to inhibiting the effects of this aberrant gene. The 2007 Nobel Prize for medicine/physiology should be recognized by PXE patients for its real world potential for improving our lives.

Readers wishing additional information will find it in the following sources used for this article: “Who’s on Nobel List?” St. Louis Post Dispatch, October 8, 2007; “Three Share Nobel Prize for ‘Designer Mice’ Research,” St. Louis Post Dispatch, October 9, 2007; “The Nobel Prize in Physiology or Medicine 2007,” Press Release and Advanced Information, Nobelprize.org website.