Gene Research Brings Insight Into Deadly Childhood Brain Tumor

U.S. scientists have unraveled the genetic code for the most common type of brain cancer in children. Gene sequencing reveals that this tumor, medulloblastoma, or MB, possesses far fewer genetic abnormalities than comparable adult tumors. The discovery that MB has five to 10 times fewer mutations than solid adult tumors could further attempts to understand what triggers the cancer and which treatment is most effective.

"The good news here is that for the first time now we've identified the broken genetic pieces in a pediatric cancer, and found that with MD there are only a few broken parts," said lead author Dr. Victor E. Velculescu, associate professor with the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University in Baltimore. "And that means it's potentially easier to intervene and to stop it," he said, likening the cancer to a train that's speeding out of control.

Velculescu and his colleagues, who report their findings in the Dec. 16 online issue of Science, say this is the first time genetic decoding has been applied to a non-adult cancer. Each year this cancer strikes about 1 in every 200,000 children younger than 15 years old. Before migrating through the patient's central nervous system, MBs begin in the cerebellum portion of the brain that is responsible for controlling balance and complicated motor function.

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Genetics May Play Role in Vitamin E Levels

Scientists have identified common genetic variations that may explain differences in peoples' ability to process vitamin E.Vitamin E is an antioxidant found in a number of oils, nuts and seeds as well as brightly-colored produce such as peppers, tomatoes and pumpkins. Previous research has found that vitamin E consumption has inconsistent effects on the amount of the vitamin in a person's body. It's been suspected that this is due to genetic variations. In this study, researchers led by Robert Parker of Cornell University in Ithaca, NY, looked at two versions of cytochrome P450 4F2 (CYP4F2), the enzyme that breaks down vitamin E.

One variant, W12G, is more common in black Americans, and the V433M version is more common in Americans of European descent. Compared to the normal CYP4F2 enzyme, the W12G variant was better able to degrade several commonly occurring forms of vitamin E called tocopherols, while the V433M variant was less able to break down these forms of the vitamin. These enzyme differences may help explain normal variations in vitamin E levels within and among populations, and may also help in the interpretation of inconsistent results of clinical trials with vitamin E, said the researchers.

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U.S. Hispanics Outlive General Population: CDC

Hispanics in the United States outlive whites by almost three years and blacks by almost eight years, according to a new report. The report, released by the U.S. Centers for Disease Control and Prevention on Wednesday, confirms the so called "Hispanic paradox" that despite reports of poverty and health issues, Hispanics live longer than others. "We have known that Hispanics have had a longer length of life," said Jane L. Delgado, president and CEO of the National Alliance for Hispanic Health, who was not involved in the research.

But the findings may surprise the average person, "because most of the time what people hear about is what problems Hispanics have," she said. These include lower income, lack of health insurance, high-risk jobs, limited access to health care and being overweight and diabetic, she said. Life expectancy for Hispanics at birth is 80.6 years; for whites, 78.1 years and for blacks, 72.9 years. In 2006, life expectancy for all Americans at birth was 77.7 years.

"Although seemingly paradoxical, these results are consistent with the findings of numerous studies, which show a Hispanic mortality advantage despite this population's lower socioeconomic status," report author Elizabeth Arias from CDC's National Center for Health Statistics, said in a CDC news release. So what's the secret? Although various theories have surfaced, experts can't say for sure why Hispanics enjoy greater longevity, but Delgado said studies are under way. "It's probably not genetic," Delgado said. "The longer people are in the United States they start to lose some of these health advantages."

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Research Sheds Light on Why Autism Is More Prevalent in Boys

A new study is helping unravel an enduring mystery surrounding autism: Why boys are much more likely to be affected by the disorder than girls. An international team led by Dr. John Vincent, of the Centre for Addiction and Mental Health in Toronto, examined specific genes in almost 3,000 people with an autism spectrum disorder (ASD) and 246 others with intellectual disability. They then compared that data to genes from more than 10,000 control individuals. Reporting in the Sept. 15 issue of Science Translational Medicine, the team found that mutations in the PTCHD1 gene are linked to inherited forms of autism and intellectual disability in about 1 percent of affected people in the study. It was not found in any of the controls, however. "Our data indicate that mutations at the PTCHD1 locus are strongly associated with ASD," the researchers concluded. They also noted that this gene is typically located on the single X-chromosome in males.

The study "provides further clues as to why ASD affects four times more males than females," said Andy Shih, vice president for scientific affairs at Autism Speaks. "PTCHD1 is part of a neurobiological pathway that determines the development of human embryos. It is one of several genes recently implicated in both ASD and intellectual disabilities." The finding adds a little more clarity to the murky origins of autism, Shih said. While each new genetic discovery "may only account for a small fraction of the cases, collectively they are starting to account for a greater percentage of individuals in the autism community, as well as providing insights into possible common pathogenic mechanisms," he said. "Identification of a male-linked genetic mutation begins to address the previously unknown basis for often reported skewed male-to-female ratio in autism."

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2 Genes Have Possible Link to Deadly Ovarian Cancer

Mutations in two genes may be associated with one of the most deadly types of ovarian cancer, U.S. researchers have found. In the study, researchers at the Johns Hopkins Kimmel Cancer Center looked for mutations in 18,000 protein-encoding genes in ovarian clear cell tumors from eight patients. The investigators found 268 mutations in 253 genes, with an average of 20 mutations per tumor. Further investigation revealed that two genes ARID1A and PPP2R1A were more commonly mutated than other genes. ARID1A mutations were present in 57 percent of tumors while PPP2R1A mutations were present in 7.1 percent of tumors, according to the report published in the Sept. 8 online edition of Science Express.

ARID1A is a gene whose product normally suppresses tumors. PPP2R1A is a gene that, when altered, helps turn normal cells into tumor cells. The genes had not previously been linked to ovarian cancer, the researchers explained in a news release from the Johns Hopkins Kimmel Cancer Center. The findings "may provide opportunities for developing new biomarkers and therapies that target those genes," Nickolas Papadopoulos, associate professor of oncology and director of Translational Genetics at the Ludwig Center for Cancer Genetics & Therapeutics at the cancer center, said in the news release. Ovarian clear cell carcinoma, which accounts for about 10 percent of cancers that start in cells on the surface of the ovaries, mainly affects women aged 40 to 80 and is resistant to chemotherapy, according to background information in the news release.

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Most Study Volunteers Seem Willing to Share Genetic Data

Most Americans are willing to have their genetic information shared in a national database, but they first want to be asked, researchers report. The new study included participants in the Adult Changes in Thought (ACT) study, a long-term project tracking age-related changes in thousands of patients that's being conducted by a team at the Group Health Research Institute and the University of Washington in Seattle. When asked if their anonymous genetic and medical data could be shared in a national database, 86 percent of the ACT participants agreed. The researchers then surveyed 365 of the participants whose reason for agreeing to share their genetic data was mostly due to their "desire to help others."

Of those 365 people, 90 percent said it was important to have been asked for reconsent, which is additional informed consent that's given by research participants before their information is used for a purpose beyond what they agreed to originally. Alternatives to reconsent such as opting out, being notified, or receiving neither individual permission nor notification were unacceptable to 40 percent, 67 percent and 70 percent of the surveyed participants, respectively, the study authors found. "We were surprised that so many people felt it was important for us to ask them, even though they decided to give their consent. This indicates that even if most of a study's participants would agree to data sharing, it's still crucial to ask them," lead author Evette J. Ludman

The study is published in the September issue of the Journal of Empirical Research on Human Research Ethics. "Trust is a two-way street, and human research requires lots of trust," Ludman said. "People have an understandable feeling of ownership over their bodies and medical records, including their genetic information. Researchers show we're worthy of trust when we ask research participants for permission to use their information in a way that they haven't already agreed to."

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