Utah
Gene mutations that impair the ability of photoreceptor cells to properly dispose of waste -- and as a result cause the blinding eye disease retinitis pigmentosa -- have been identified by vision researchers at the University of Utah's Moran Eye Center. The discovery raises concerns that carbonic anhydrase inhibitors (medications often used to treat both heart and eye diseases) may adversely affect vision. Retinitis pigmentosa (RP) is one of the most common causes of blindness. It affects one in 3,500 people or approximately two million people worldwide. Patients with RP typically are diagnosed with night blindness and, as the disease progresses, they eventually lose all of their peripheral vision and a significant portion of their central vision.
A new study assembles evidence that humans evolved and human anatomy looks the way it does because our ancestors were more likely to survive if they could run. Humans evolved from ape-like ancestors because they needed to run long distances -- perhaps to hunt animals or scavenge carcasses on Africa's vast savannah -- and the ability to run shaped our anatomy, making us look like we do today.
Vision researchers at the University of Utah's John A. Moran Eye Center have discovered a gene mutation responsible for causing a rare disease in four generations of a single Utah family. The disease, which is informally being called Beehive Syndrome because of its connection to Utah (the Beehive State), causes both vision and hearing loss in patients. Officially, patients with the disease are described as suffering from optic atrophy (optic nerve degeneration), deafness, ptosis (drooping of the upper eyelid), and ophthalmoplegia (loss of eye movement).
Deaths from cardiac valve diseases appear to run in families, suggesting a significant genetic component, according to a study published in Circulation: Journal of the American Heart Association. ?These findings suggest that unknown genetic factors contribute to death due to mitral valve disease and death due to non-rheumatic aortic valve disease,? said Benjamin Horne, lead author of the study and a Ph.D. candidate in genetic epidemiology at the University of Utah?s department of medical informatics in Salt Lake City. ?Future studies will attempt to discover the genes responsible for such risk.?
The Genesis team is preparing to ship its samples of the Sun from the mission's temporary cleanroom at the U.S. Army Proving Ground, Dugway, Utah, to NASA's Johnson Space Center, Houston. ''We have essentially completed the recovery and documentation process and now are in the business of preparing everything for transport,'' said Eileen Stansbery, Johnson Space Center assistant director of astromaterials research and exploration science. ''We still have a way to go before we can quantify our recovery of the solar sample. I can tell you we have come a long way from September 8, and things are looking very, very good.''
A new study showing how lice evolved with the people they infested reveals that a now-extinct species of early human came into direct contact with our species about 25,000 years ago and spread the parasites to our ancestors. The study found modern humans have two genetically distinct types of head lice. One type is found worldwide and evolved on the ancestors of our species, Homo sapiens. The second type is found only in the Americas, evolved on another early human species (possibly Homo erectus) and jumped to Homo sapiens during fights, sex, sharing of clothes or perhaps cannibalism.
Mutations in the adenomatous polyposis coli (APC) tumor suppressor gene have been found to cause 85 percent of colon cancers. Now researchers know why. In a new paper, they explain that APC controls the conversion of dietary vitamin A into retinoic acid. If this process is impaired, colon cancer can result. ''For a long time, scientists believed they knew what the APC gene did -- that it regulated cell growth and division -- but now we know we've been missing a big piece of the picture. What we didn't know was that it converts vitamin A into retinoic acid, which is vital for normal colon cell development.''
The Genesis sample return capsule's drogue and parafoil did not deploy as planned today, and the capsule impacted on the ground in the Utah desert (image at right). Since the spacecraft landed in a remote area, no people have been injured and no structures have been damaged. NASA has declared a spacecraft contingency, which calls for the establishment of a mishap review board within 72 hours. As always, safety is the top priority, and NASA is working to make sure that no one is in danger from unexploded ordnance that was supposed to deploy the parachutes.
NASA's Genesis spacecraft crossed the orbit of the Moon early Monday, Sept. 6, on its way to the mission's dramatic finale over the skies of west-central Utah tomorrow. Genesis, bringing back samples of the solar wind, is NASA's first sample return mission since Apollo 17 returned the last of America's lunar samples to Earth in December 1972. An important milestone in the mission was met Monday morning, when the Genesis spacecraft performed its final trajectory maneuver before capsule release and the dramatic midair capture over Utah. The spacecraft passed the Earth-Moon orbit at about 2 a.m. Pacific Time on Monday, traveling at about 1.25 kilometers per second (2,700 miles per hour).
Hotspots in two areas of a gene that encodes a specific signaling enzyme, or kinase, are vulnerable to a variety of mutations found in five types of brain cancers, according to a report published in the August 1 issue of the journal Cancer Research. Mutations in the gene PIK3CA occur spontaneously as part of the brain tumor development rather than being passed genetically between generations, said Hai Yan, M.D., Ph.D., the senior scientist of the studies. ''PIK3CA mutations are known to occur in as much as 30 percent of colorectal and gastric cancers and glioblastomas and they are also present, to a lesser extent, in breast and lung cancer,'' Yan noted. ''Our studies defined the association of mutant PIK3CA gene in a wider spectrum of adult and pediatric brain tumors as well.''
An experiment conducted in Peru's Amazon Basin shows insects increase the diversity of the rainforest when they munch on trees. Such seemingly destructive behavior keeps dominant tree species under control but allows other trees to thrive. ''The battle between plants and insects increases the number of habitats in the rainforest,'' thus increasing the diversity of trees living there, says biology doctoral student Paul Fine, first author of the study published July 30 in the journal Science.
A genetic variation seen worldwide in which people either taste or do not taste a bitter, synthetic compound called PTC has been preserved by natural selection, researchers have reported. Phenylthiocarbamide (PTC) is not found in nature, but the ability to taste it correlates strongly with the ability to taste other bitter substances that occur naturally, especially toxins. Eons ago, the ability to discern bitter tastes developed as an evolutionary mechanism to protect early humans from eating poisonous plants.
Even before marble-shaped pebbles nicknamed ''blueberries'' were discovered on Mars by the Opportunity rover, University of Utah geologists studied similar rocks in Utah's national parks and predicted such stones would be found on the Red Planet. In a study published in the June 17 issue of the journal Nature, the Utah researchers suggest both the Martian and Utah rocks ? known as hematite concretions ? formed underground when minerals precipitated from flowing groundwater.
Tomorrow, on June 8, beginning shortly after 5 hrs UT, a large part of the world will be sharing a unique sight never seen by any person now living. During a little more than six hours, planet Venus will cross the face of the Sun, offering a wonderful show for everybody to admire. Nobody should miss the opportunity to witness this great event! And - good luck! - it appears that the observing condition prospects are rather favourable in large areas of the world.
A powerful earthquake that rocked Alaska in 2002 not only triggered small earthquakes almost 2,000 miles away at Wyoming's Yellowstone National Park ? as was reported at the time ? but also changed the timing and behavior of some of Yellowstone's geysers and hot springs, a new study says. ''We did not expect to see these prolonged changes in the hydrothermal system,'' says University of Utah seismologist Robert B. Smith.
