Within a week of Christmas day, a drug called nusinersen (Spinraza) will be in the hands of doctors across the nation, who will use it, most urgently, to treat young children with a severe and potentially fatal illness called spinal muscular atrophy (SMA). The leading genetic cause of infant mortality, SMA is a motor neuron disease that leads to the wasting of young muscles, impairing the ability of newborns and toddlers to walk, crawl, or even hold their heads up, and in the most severe cases, failure of muscles that enable them to breathe. Nusinersen (to be sold by Biogen under the brand name Spinraza) was conceived and tested over several years in mouse models of SMA by Professor Adrian Krainer, Ph.D., and his colleagues at Cold Spring Harbor Laboratory (CSHL) in collaboration with drug developers led by Dr. Frank Bennett at Ionis Pharmaceuticals. Their collaboration began a dozen years ago. “Some are understandably calling the FDA’s announcement of nusinersen’s approval ‘a Christmas surprise,’” Dr. Krainer commented. “For those of us who have had the thrilling experience of working on this drug from the very beginning, and have watched it succeed in reversing SMA pathology in animals—and more recently in young people with the illness—news of the approval is incredibly gratifying. Most gratifying to me is the thought that thousands of families will now be able to see their loved ones benefit from the drug’s therapeutic effects.” “This drug will save lives of young people with severe SMA, and will improve the lives of many thousands of older children and adults who have disabling forms of the disease,” said Bruce Stillman, Ph.D., President and CEO of CSHL.
Researchers have found evidence that could shed new light on the complex community of trillions of microorganisms living in all our guts, and how they interact with our bodies. Scientists at the University of Exeter Medical School in the UK and the University of Zaragoza in Spain studied a protein known as Toll-like receptor 2 (TLR2) (image), a critical detector of the microbiota found in the intestine. TLR2 is a microbiota recognition receptor that has been described to contribute to intestinal homeostasis and to ameliorate inflammatory intestinal injury. In this new study, the scientists found that TLR2 regulates levels of serotonin – a neurotransmitter which carries messages to the brain, and is also found in the gut, where it regulates our bowel routines. The research, carried out in cell cultures and verified in mice, provides strong evidence that microbiota can interfere with human physiology by modulating the serotonin transporter activity. Serotonin transporter is a target for numerous diseases and it seems that microbiota living in our guts are able to interfere with this transporter by activation of TLR2, controlling our serotonin levels. The finding, published online on December 29, 2016 in PLOS ONE, comes as scientists across the world are working to understand the complicated interactions between the “invisible world” of the microbiota in our bodies and the impact they have on our health and even our moods. The open-access PLOS One article is titled “Intestinal Serotonin Transporter Inhibition by Toll-Like Receptor 2 Activation. A Feedback Modulation.” The finding may also help explain how the microbiota in our guts affect our physiology. Inflammatory bowel disease is thought to be triggered when TLR2 is not functioning properly, but so far, the mechanisms behind this have not been fully understood.