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New Study Reveals How BRCA1 Mutations Cause
research briefs
| Gaucher’s Disease Gene Linked to Parkinson’s Taub Institute researchers have discovered that mutations in a gene that causes Gaucher disease also increase the risk of getting Parkinson’s disease, particularly before age 50. “The glucocerebrosidase gene (GBA) is an important risk factor for Parkinson’s disease,” says the study’s lead author, Lorraine Clark, Ph.D., assistant professor of clinical pathology. “In our study we found that mutations in the GBA gene are two to three times more frequent in Parkinson’s patients than unaffected individuals.” The study of 357 people found that GBA mutations are found in about 14 percent of Parkinson’s patients, but only 5 percent of unaffected people. GBA mutations were even more common in patients diagnosed before age 50: 22 percent of early onset patients carried a mutation, suggesting that the GBA gene modifies age at onset of Parkinson’s disease. GBA works in different biochemical pathways than other known Parkinson’s genes, opening up new avenues for research into what triggers the disease. Dr. Clark also says the GBA gene may be useful in diagnosis and genetic counseling in the future, but more studies are needed. Neurology 69: 1270-1277 The research was supported by the NIH and the Parkinson’s Disease Foundation. Small Class Size May Improve Health A new analysis shows that reducing class size in early elementary school may be more cost-effective than childhood vaccination at improving health later in life. “People often assume that investments in medical care contribute more to health than do investments elsewhere,” says the study’s author, Peter Muennig, M.D., M.P.H., assistant professor of health policy & management. “Our findings point to the importance of looking more broadly at the options available for improving health outcomes, including those outside the boundaries of clinical medicine.” The new study builds on a recent randomized controlled trial of class size from kindergarten to third grade. That trial found a reduction in class size from 22 to 25 pupils to 13 to 17 pupils increased the high school graduation rate by 12 percent. Dr. Muennig then used several databases of health and educational status to calculate the long-term health effects of high school graduation on students. High school graduates may enjoy better health because they are less likely to have dangerous jobs and they earn more money that can be spent on healthcare. The study found that reducing class size would cost the government $8,076 per student up front. However, this initial investment would produce large dividends, saving society as a whole $168,431 over each additional high school graduate’s lifetime. High school graduates benefit not only by having higher earnings but also by having a longer and healthier life, adding 1.7 quality-adjusted life years (QALY) to their lives. One QALY is equal to one year of perfect health. Dr. Muennig says less costly efforts to raise high school graduation rates also may promote better health, but these interventions have not yet been evaluated in a randomized controlled trial. Am J Public Health 97: 2020-2027 The research was supported by the William T. Grant Foundation. |
