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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.
WASHINGTON, July 5 (Xinhua) -- Adhering to a healthy lifestyle, including not smoking, exercising regularly, having a low body weight and eating a healthy diet, appears to lower the risk of sudden cardiac death (SCD) in women, according to a study to be published Wednesday in the Journal of the American Medical Association."Sudden cardiac death (defined as death occurring within one hour after symptom onset without evidence of circulatory collapse) accounts for more than half of all cardiac deaths, with an incidence of approximately 250,000 to 310,000 cases annually in the United States," the authors write as background information in the study.Using data collected as part of the Nurses' Health Study, Stephanie Chiuve, of Brigham and Women's Hospital and Harvard Medical School, and colleagues examined the association between a healthy lifestyle and risk of SCD.A total of 81,722 women who participated in the Nurses' Health Study from June 1984 to June 2010 were included in the new study, and lifestyle factors were assessed via questionnaires every two to four years. A low-risk lifestyle was defined as not smoking, having a body mass index (BMI) of less than 25, exercise duration of 30 minutes/day or longer, and consuming a diet closely related to a Mediterranean-style diet (emphasizes high intake of vegetables, fruits, nuts, legumes, whole grains and fish, with moderate alcohol intake).During the 26 years of follow-up, there were 321 cases of SCD among women (average age 72 years at the time of the SCD event) in the study. All four low-risk factors were significantly and independently associated with a lower risk of SCD. Not smoking, exercising and eating a healthy diet each were inversely associated with risk of SCD. BMI also was associated with the risk of SCD, with women having a BMI between 21 and 24.9 at lowest risk.Women at low risk for all four lifestyle factors had a 92 percent lower risk of SCD when compared with women at low risk for none of the four lifestyle factors."In this cohort of female nurses, adherence to an overall healthy lifestyle was associated with a lower risk of SCD and may be an effective strategy for the prevention of SCD," the authors write.

WASHINGTON, July 13 (Xinhua) -- Human neural stem cells are capable of helping people regain learning and memory abilities lost due to radiation treatment for brain tumors, a University of California, Irvine (UCI) study suggests.Research with rats found that stem cells transplanted two days after cranial irradiation restored cognitive function, as measured in one- and four-month assessments. In contrast, irradiated rats not treated with stem cells showed no cognitive improvement."Our findings provide solid evidence that such cells can be used to reverse radiation-induced damage of healthy tissue in the brain," said Charles Limoli, a UCI radiation oncology professor.Study results will appear Friday in Cancer Research, a journal of the American Association for Cancer Research.Radiotherapy for brain tumors is limited by how well the surrounding tissue tolerates it. Patients receiving radiation at effective levels suffer varying degrees of learning and memory loss that can adversely affect their quality of life."In almost every instance, people experience severe cognitive impairment that's progressive and debilitating," Limoli said. " Pediatric cancer patients can experience a drop of up to three IQ points per year."For the UCI study, multipotent human neural stem cells were transplanted into the brains of rats that had undergone radiation treatment. They migrated throughout the hippocampus -- a region known for the growth of new neurons -- and developed into brain cells.Researchers assessed the rats one month and four months after transplantation, noting enhanced learning and memory abilities at both intervals.Additionally, they found that transplanting as few as 100,000 human neural stem cells was sufficient to improve cognition after cranial irradiation. Of cells surviving the process, about 15 percent turned into new neurons, while another 45 percent became astrocytes and oligodendrocytes -- cells that support cerebral neurons.Most notably, Limoli said, he and his colleagues discovered that about 11 percent of the engrafted cells expressed a behaviorally induced marker of learning, indicating the functional integration of those cells into memory circuits in the hippocampus."This research suggests that stem cell therapies may one day be implemented in the clinic to provide relief to patients suffering from cognitive impairments incurred as a result of their cancer treatments," Limoli said.
WELLINGTON, July 26 (Xinhua) -- Children born early are less likely to develop serious behavioral problems than previously thought because previous studies may have relied too much on the opinions of "sensitive" parents, according to a controversial New Zealand research.The study by the Child Development Research Group at the University of Canterbury looked at the emotional and behavioral adjustment of children born very preterm (VPT).It showed that by age 6 children born very preterm (less than 33 weeks) were at an increased risk of emotional and attentional problems when compared with their full term peers, said a statement from the university.However, the findings suggested the risks may be lower than previous studies had suggested, because previous studies primarily relied on parents to provide information on their children's conditions, said lead author Samudragupta Bora."While parents are an important source of information about their child, it is also important to gather information from other significant people in the child's life such as their classroom teacher," said Bora.Bora and other members of the research team, found that parents reported higher rates of emotional and attention problems in their children than teachers did."Having a baby born prematurely is an extremely stressful experience for parents. During their baby's stay in the neonatal unit most parents will have been alerted to the possibility of their child developing problems such as behavioral difficulties in the future due to being born too early. Therefore, very understandably, many parents of these children are very sensitive to the possibility of developmental problems," he said."The use of multiple informants - parents, teachers and clinical observation - to assess VPT children's well-being is important to minimize the effects of report source bias and the over or under-identification of adjustment problems in children born VPT," said Bora."This is controversial because it shows that reliance on parents or teachers alone can lead to data validity issues."Although children born VPT were at higher risk of showing emotional and attentional problems, the risks of more severe problems were relatively modest, said Bora.The findings have been published the Journal of Paediatrics and Child Health.
WASHINGTON, Aug. 31 (Xinhua) -- Astronomers using NASA's Chandra X-ray Observatory discovered the first pair of supermassive black holes in a spiral galaxy similar to the Milky Way, NASA announced Wednesday.Approximately 160 million light years from Earth, the pair is the nearest known such phenomenon.The black holes are located near the center of the spiral galaxy NGC 3393. Separated by only 490 light years, the black holes are likely the remnant of a merger of two galaxies of unequal mass a billion or more years ago.Both of the supermassive black holes are heavily obscured by dust and gas, which makes them difficult to observe in optical light. Because X-rays are more energetic, they can penetrate this obscuring material. Chandra's X-ray spectra show clear signatures of a pair of supermassive black holes."If this galaxy weren't so close, we'd have no chance of separating the two black holes the way we have," said Pepi Fabbiano of the Harvard-Smithsonian Center for Astrophysics, who led the study that appeared Wednesday in on-line issue of the journal Nature. "Since this galaxy was right under our noses by cosmic standards, it makes us wonder how many of these black hole pairs we've been missing."Previous observations in X-rays and at other wavelengths indicated that a single supermassive black hole existed in the center of NGC 3393. However, a long look by Chandra allowed the researchers to detect and separate the dual black holes. Both black holes are actively growing and emitting X-rays as gas falls towards them and becomes hotter.When two equal-sized spiral galaxies merge, astronomers think it should result in the formation of a black hole pair and a galaxy with a disrupted appearance and intense star formation. A well-known example is the pair of supermassive black holes in NGC 6240, which is located about 330 million light years from Earth.However, NGC 3393 is a well-organized spiral galaxy, and its central bulge is dominated by old stars. These are unusual properties for a galaxy containing a pair of black holes.
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