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Основные статьи и публикации


Конференция FSMA была сосредоточена на главных оставшихся без ответа темах, которые были рассмотрены на пяти сессиях. здесь

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.


SMA Research News 

Click each of following links to read more about each article.

Dr.  Swoboda and colleagues publish a paper entitled, "Vascular perfusion abnormalities in infants with spinal muscular atrophy." in the Journal of Pediatrics.

Dr. Prior's lab at OSU publishes a paper in the American Journal of Human Genetics called "A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene".

Genzyme Genetics publishes a paper in the Journal of Medical Genetics titled "Differences in SMN1 allele frequencies among ethnic groups within North America."

Dr. Lorson's lab published a paper called "Delivery of a read-through inducing compound, TC007, lessens the severity of a SMA animal model" in Human Molecular Genetics.

"Efficient transduction of non-human primate motor neurons after intramuscular delivery of recombinant AAV serotype 6" was reported in Gene Therapy.

Dr. Kothary's lab publishes a paper in the Journal of Neuroscience Research titled "Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy".

"Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy" reported in the Journal of Pathology.

Dr. Mackenzie's lab publishes paper in Human Molecular Genetics entitled "p38 Mitogen-Activated Protein Kinase Stabilizes SMN mRNA Through RNA Binding Protein HuR".

Paper titled "Oral administration of the thyrotropin-releasing hormone (TRH) analogue, taltireline hydrate, in spinal muscular atrophy" published in the Journal of Child Neurology.

Paper titled "Highly efficient differentiation and enrichment of spinal motor neurons derived from human and monkey embryonic stem cells"  published in PloS One.

Dr. Chander's lab at OSU publishes a paper called "Intron 7 conserved sequence elements regulate the splicing of the SMN genes" in Human Genetics.



Revised April 4, 2010 ©2004 СSMA