report this month announcing that scientists had pinpointed the mutation they believe is responsible for the very unusual Proteus Syndrome, a finding which they suggested may hold promise in understanding and treating cancer. For more information about Proteus Syndrome, see: FAQ.
Details of the study were first published this month in the New England Journal of Medicine here: A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome.
Proteus Syndrome is an extremely rare condition involving the uncontrolled, typically asymmetric overgrowth of various body tissues, bones and other parts. Identification involves noting the unequal distribution of affected areas, the appearance of the suspected syndrome among only one member in a family, and continued growth over time of the body areas experiencing accelerated growth.
"Proteus syndrome does not run in families, but faulty genes were believed to be responsible. Some experts proposed that the condition might be a genetic mosaicism. Mosaic disorders arise when a genetic mutation occurs spontaneously during embryonic development," the NIH report states.
A research team at the NIH’s National Human Genome Research Institute (NHGRI) used a technique called whole-exome sequencing to examine the cells of six affected individuals in order to determine if their hypothesis was correct. What they discovered was a gene that had already been implicated in cancer studies and related therapies.
"The analysis reveled a single-letter misspelling in the genome of affected cells," The NIA states. "The mutated gene, called AKT1, is a known ocogene—a gene that can promote the uncontrolled cell growth associated with cancer."
Further confirmation of the role played by a gene defect was found by testing 29 others, for who 26 showed the variation. No variations have been found beyond affected individuals.
Accelerated AKT protein activity had been observed in previous research into the cause of the syndrome.
The focus now is on developing a drug to inhibit the increase in AKT protein activity.
For further reading, see: Gene Variant in Proteus Syndrome Identified.
Monday, August 29, 2011
Saturday, August 13, 2011
For more on the subject, see this reference in the Stanford Encyclopedia of Philosophy, or Wikipedia's entry on Quantum Entanglement. This article by Paul Comstock published in 2007 in the California Literary Review called "The Strange World of Quantum Entanglement" also makes some interesting observations.
Currently, laser beams have been the instrument of necessity for scientists working to create such a state of quantum superposition. That may all change, however, with further advances on the recently-discovered capability of microwaves to propel ions into this precise state, as was announced by researchers at the National Institute of Standards and Technology.
Microwave technology would enable far smaller devices to be built and lead to significant advances in quantum computing--or so it's hoped.
Clay Dillow, writing in POPSCI, states: "The entire layout described by the NIST researchers in an upcoming issue of the journal Nature is tabletop-size, or roughly one-tenth as big as the usual room-sized “laser park” needed to generate controlled ion entanglement with light."
Dillow cites the potential as huge and notes the already-common use of microwaves in wireless communication.
Richard Adhikari, writing in TechNewsWorld: "The microwaves used are similar to those used in smartphones, and NIST speculates that eventually a quantum computer could resemble a smartphone."
Quantum physics is fascinating--and a bit spooky. What other things in the realm of human existence are entangled--connected though separated--that we have yet to recognize?
Following is a 2006 lecture on quantum entanglements by Standford University Professor Leonard Susskind.
Lecture 2: http://www.youtube.com/watch?v=VtBRKw1Ab7E&feature=relmfu
Lecture 3: http://www.youtube.com/watch?v=CaTF4QZ94Fk&feature=relmfu
Lecture 4: http://www.youtube.com/watch?v=5vfo512fvlE&feature=relmfu
Lecture 5: http://www.youtube.com/watch?v=XlLsTaJn9AQ&feature=relmfu