DcpS as a Therapeutic Target for Spinal Muscular Atrophy Новый белок DcpS идентифицирован как объект для воздействия лекарственными препаратами.Результаты, представленные в публикации, дают возможность понять механизм образования дефицита SMN белка, что, в свою очередь, даст возможность продвинуться в поиске терапии для СМА.

Stem cell transplantation benefits mice with childhood motor neuron disease

Stem cell transplantation benefits mice with childhood motor neuron disease The motor neuron disease Spinal Muscular Atrophy (SMA) is the second most common genetic disorder leading to death in childhood. There is currently no cure for SMA, but some clinicians and researchers consider stem cell transplantation as a potential therapeutic strategy. And now, Giacomo Comi and colleagues, at the University of Milan, Italy, have generated data using a mouse model of SMA to suggest that spinal cord neural stem cells (NSCs) might be a possible treatment for individuals with SMA. In the study, NSCs from mice in which a green marker protein was expressed only in nerve cells known as motor neurons (the cells that are defective in SMA) were transplanted into the fluid bathing the spinal cord of mice with an SMA-like disease. The transplanted cells developed into a small number of motor neurons and the treated mice showed improved muscular function and increased lifespan, when compared with untreated mice. Further analysis indicated that the major effect of NSC transplantation was that the transplanted cells improved the survival and function of the motor neurons already in the mice, making them more like normal motor neurons (at the gene expression level). The authors therefore suggest that in the future, NSCs might be used in the development of therapeutic protocols for the treatment of SMA and other motor neuron diseases. PDF FSMA page

Results Published in Annals of Neurology Entitled, "Sustained Improvement of Spinal Muscular Atrophy Mice Treated with Trichostatin A Plus Nutrition"

The paper, published by the research group of Dr. Charlotte Sumner at Johns Hopkins University and partially funded by Families of SMA, shows for the first time sustained survival in SMA mice after using a specific drug regimen. This regimen entailed early treatment with the histone deacetylase inhibitor trichostatin A (TSA), starting on day 2 post birth and nutritional support including infant formula by mouth and subcutaneous fluids, starting on day 8 post birth.  Average survival time was extended by 170%, while in experiments using just TSA treatment alone survival was extended by 40% and by 19% when TSA alone began later on day 5 post birth.  Nutritional support alone did not extend survival times. TSA is not suitable for human use, but other potent second generation HDAC inhibitors are currently being explored as possible treatments for SMA. Click here to see the journal site.