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Small brain mutation
Mutations in a single gene are the cause of a rare genetic disorder that leaves children with a brain one-tenth the normal size, two international teams of researchers report April 28 in the American Journal of Human Genetics. To identify the mutations, researchers analyzed DNA from Turkish, Pakistani and Saudi Arabian families with children who had extremely underdeveloped brains. Affected children had mutations in a gene called NDE1, both groups found. Cells without a working copy of the gene don’t correctly divide to form new cells, a defect that probably prevents the brain from growing normally in early development. Further studies of the gene might reveal clues to how humans evolved large brains, the researchers speculate. —Laura Sanders
Calcium linked to heart risks
Researchers in Switzerland have correlated excess levels of calcium in the blood with a large and diverse set of risk factors for heart disease in a cross-section of 4,200 adults 35 to 75 years old. The strongest and most novel associations pointed to signs of oxidative stress. These markers included elevations in uric acid (responsible for gout), homocysteine (a marker of meat consumption) and the liver enzyme GGT. There’s no evidence that calcium consumption is itself a problem, the authors note in the April 21 PLoS One. Risks may trace instead, they say, to the body’s inappropriate management of the substance. —Janet Raloff
MS linchpin found in mouse tests
A previously unknown kind of immune cell makes a protein that may be a pivotal player in multiple sclerosis, two studies in an upcoming issue of Nature Immunology show. The protein is an inflammation-causing immune agent called GM-CSF. In mice prone to MS-like disease, animals lacking the protein didn’t get sick, a Swiss team reports. Likewise, mice with a version of MS were cured of it when the GM-CSF protein was neutralized. A U.S. team also arrives at GM-CSF as a culprit in the disease and delineates how other immune cells and proteins appear to be involved in steps leading to MS, which is marked by an immune assault on protective sheaths that insulate nerves. —Nathan Seppa
HIV may increase heart failure risk
People infected with HIV, the AIDS virus, may be more prone to developing heart failure, scientists report in the April 25 Archives of Internal Medicine. A study of more than 8,000 veterans who were monitored for a median of 7.3 years revealed 286 incidents of heart failure. The rate of heart failure incidents was 81 percent higher among HIV-positive participants. The U.S. team of researchers accounted for differences in age, race and ethnicity among the vets when conducting the analysis. Higher viral loads meant higher heart-failure risk, the scientists noted. —Nathan Seppa
Found in: Biomedicine and Body & Brain

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Small brain: M. Bakircioglu et al. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. Anerican Journal of Human Genetics. Published online April 28, 2011. doi:10.1016/j.ajhg.2011.03.019. Available online:
[Go to] - Small brain: F. Alkuraya et al. Human Mutations in the NDE1 Cause Extreme Microcephaly with Lissencephaly. Anerican Journal of Human Genetics. Published online April 28, 2011. doi:10.1016/j.ajhg.2011.04.003. Available online: [Go to]
- Calcium: I. Guessous, et al. Serum calcium levels are associated with novel cardiometabolic risk factors in the population-based CoLaus study. PLoS One, Vol. 6, April 21, 2011, p. e18865. doi:10.1371/journal.pone.0018865
[Go to] - MS: M. El-Behi et al. The encephalitogenicity of Th17 cells is dependent on IL-1- and IL-23-induced production of the cytokine GM-CSF. Nature Immunology, in press, online 24 April 2011. doi:10.1038/ni.2031
- MS: L. Codarri et al. ROR-gamma-t drives production of the cytokine GM-CSF in helper T cells, which is essential for the effector phase of autoimmune neuro-inflammation. Nature Immunology, in press, online 24 April 2011. doi:10.1038/ni.2027
- HIV Heart failure: A. A. Butt et al. Risk of Heart Failure With Human Immunodeficiency Virus in the Absence of Prior Diagnosis of Coronary Heart Disease. Archives of Internal Medicine, Vol. 171, 2011, p. 737.
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