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CANBERRA, Sept. 7 (Xinhua) -- A team of Australian and U.S. scientists on Wednesday said they discovered a genetic defect, which can lead to Leigh syndrome, a rare disorder which affects the central nervous syndrome.The scientists tested more than 1000 genes by encoding proteins active in two individuals who suffer from the illness. They used a new technique known as next-generation DNA sequencing to examine the genes.The gene they discovered encodes an enzyme which is found in the mitochondria which are subsets of cells. Without this enzyme the mitochondria do not translate proteins efficiently, and this then causes Leigh syndrome.According to David Thorburn, from the Murdoch Children's Research Institute in Melbourne, the discovery shows the enormous potential of the new technology."These findings demonstrate the ability of sequencing technologies to improve diagnosis," Professor Thorburn said in a statement released on Wednesday."Although it isn't clear in the case of Leigh syndrome whether the precise molecular diagnosis will necessarily lead to therapies, the current findings represent a meaningful service."He added that diagnosis of the disease along with its specific genetic cause can also be informative about the risk a couple has of having another affected child. The diagnostic information can help in decisions about whether and how to pursue alternative means of having children, for instance through the use of donor sperm or eggs.The research team consisted of scientists from Australia's Murdoch Institute as well as the Broad Institute in the U.S.In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of three. The problem is that the mitochondria responsible for powering their cells cannot keep up with the demand for energy in their developing brains.
JIANGYIN, Jiangsu, July 1 (Xinhua) -- China's manned deep-diving submersible, the Jiaolong, embarked on a journey on Friday during which it will make a 5,000-meter dive in the Pacific Ocean.During the dive, the submersible will undergo several operational tests in which it will take photos, shoot video, survey seabeds and take samples from the ocean floor, according to Jin Jiancai, deputy director of the submersible's diving test program team.The tests will be conducted in the Pacific Ocean in accordance with a contract signed between the China Ocean Mineral Resources Research & Development Association and the International Seabed Authority (ISA).The submersible is scheduled to spend 47 days at sea, according to a statement from the Ministry of Science and Technology.A submersible differs from a submarine, as it typically depends on another vessel or facility for support.The Jiaolong, designed to reach a depth of 7,000 meters, completed 17 dives in the South China Sea between May 31 and July 18 last year, reaching 3,759 meters during its deepest dive.In the year since the submersible's last dive, program team members have made several technical improvements to the submersible and its support vessel, Jin said.Jin said the program team members are "very confident" about the test.He also stressed that the test will be carried out in accordance with the provisions of the United Nations Convention on the Law of the Sea as well as the ISA's rules and regulations.The Jiaolong is the world's first manned submersible designed to reach depths of 7,000 meters below sea level, according to Xu Qinan, the submersible's chief designer.
BEIJING, Sept. 6 (Xinhuanet) -- NASA will launch on Thursday twin lunar orbiters built to map the gravity of Earth's moon in unprecedented detail, media reported Tuesday.The twin lunar probes, Graili-A and Graili-B, will blast off from Florida's Cape Canaveral Air Force Station at 8:37 a.m. EDT and at 9:16 a.m. EDT respectively Thursday, according to NASA.The Grail twins will travel three to four months to get to the moon under a slower but more economical plan.Artist concept of GRAIL mission. Grail will fly twin spacecraft in tandem orbits around the moon for several months to measure its gravity field in unprecedented detail.The two spacecrafts will reach the moon around New Year's Day when they will begin to probe the moon's composition from the crust to the core, according to NASA.The data collected by the probes will be used to better understand the moon's evolution and formation, NASA scientists said.Researchers will also use the twin probes to pinpoint the best landing sites for future explorations.The mission, from start to finish, costs 496 million U.S. dollars. The two Grail probes will crash into the moon after its mission.
LOS ANGELES, June 3 (Xinhua) -- Eating earth may protect the stomach against toxins, parasites and pathogens, a new study suggests.To examine the possible benefits from eating earth, researchers at Cornell University analyzed reports from missionaries, plantation doctors, explorers, and anthropologists to put together a database of more than 480 cultural accounts of geophagy -- the eating of earth.The database includes as many details as possible about the circumstances under which earth was consumed, and by whom. The researchers could then use patterns in the data to evaluate each potential explanation.Studies in the database indicate that geophagy is common even when food is plentiful. Moreover, when people eat dirt they tend to eat only small quantities that are unlikely to fill an empty stomach.The database shows that geophagy is documented most commonly in women in the early stages of pregnancy and in pre-adolescent children. Both categories of people are especially sensitive to parasites and pathogens, according to the researchers.In addition, geophagy is most common in tropical climates where foodborne microbes are abundant. Finally, the database shows that people often eat earth during episodes of gastrointestinal stress.It's unlikely the intestinal problems are caused by the dirt itself because the type of clay people usually eat comes from deep in the ground, where pathogens and parasites are unlikely to contaminate it. Plus, people usually boil the clay before eating it.More study would be helpful to confirm the protection hypothesis, the researchers say, but the available data at this point clearly support it over the other explanations for eating earth."We hope this paper stimulates (more) research," said Sera Young, a researcher at Cornell University and the study's lead author. "More importantly, we hope readers agree that it is time to stop regarding geophagy as a bizarre, non-adaptive gustatory mistake.""With these data, it is clear that geophagy is a widespread behavior in humans ...that occurs during both vulnerable life stages and when facing ecological conditions that require protection."The study is appearing in the June issue of The Quarterly Review of Biology.