An important breakthrough could help in the fight against myotonic dystrophy. The discovery, recently published in the prestigious scientific journal Cell, results from an international collaboration between researchers at the IRCM, the Massachusetts Institute of Technology (MIT), the University of Southern California and Illumina. Their findings could lead to a better understanding of the causes of this disease.
Myotonic dystrophy (DM), also known as Steinert's disease, is the most common form of muscular dystrophies seen in adults. This disorder is characterized by muscle weakness and myotonia (difficulty in relaxing muscles following contraction). It is a multi-system disease, typically involving a wide range of tissues and muscle.
"We studied a specific family of proteins called muscleblind-like proteins (Mbnl), which were first discovered in the fruit fly Drosophila melanogaster," says Dr. ric Lcuyer, Director of the RNA Biology research unit at the IRCM. "These RNA-binding proteins are known to play important functions in muscle and eye development, as well as in the pathogenesis of DM in humans."
Because of the extreme heterogeneity of clinical symptoms, DM has been described as one of the most variable and complicated disorders known in medicine. The systems affected, the severity of symptoms, and the age of onset of those symptoms greatly vary between individuals, even within the same family.
"In patients with DM, levels of Mbnl proteins are depleted to different extents in various tissues," explains Dr. Neal A.L. Cody, postdoctoral fellow in Dr. Lcuyer's laboratory. "These alterations in levels and functions of Mbnl proteins are thought to play an important role in causing the disease."
"The global transcriptome analyses conducted in this study yielded several insights into Mbnl function and established genomic resources for future functional, modeling, and clinical studies," add Drs. Christopher B.
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Institut de recherches cliniques de Montreal