A Novel Test Could Make Sure Newborns With a Serious Genetic Disease Get Essential Treatment

Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU)—a congenital disease that, if not treated early, causes serious complications. Research demonstrating the efficacy of this test was published today in AACC’s Clinical Chemistry journal.

People of East Asian Descent Have More Vessels Reclog After Endovascular Treatment

Among people who received endovascular therapy to mechanically remove a clot in their large brain artery, those who had a rare genetic variant found primarily in people of East Asian descent (Japanese, Chinese and Korean) were more likely to have the vessel reclog during or shortly after the procedure, according to a small study published today in Stroke: Vascular and Interventional Neurology, an open access journal jointly published by the American Heart Association/American Stroke Association and the Society of Vascular and Interventional Neurology.

Common Antiretroviral Drug Improves Cognition in Mouse Model of Down Syndrome

Lamivudine, a commonly-used antiretroviral drug for treating HIV, improves cognition in a mouse model of Down syndrome, according to the findings of a joint new study by researchers at the Centre for Genomic Regulation (CRG) and the IrsiCaixa AIDS Research Institute, a centre jointly promoted by the “la Caixa” Foundation and the Department of Health of the Generalitat de Catalunya. The research is published today in the Journal of Cellular and Molecular Medicine.

New technique allows scientists to measure mitochondrial respiration in frozen tissue

UCLA scientists have developed a method for restoring oxygen-consumption activity to previously frozen mitochondria samples. By speeding up research, investigators hope to accelerate the diagnosis of people living with mitochondrial diseases and secondary disorders in which mitochondria play a key role, including diseases related to aging, metabolism and the heart.