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Underlying causes of impaired brain function in muscular dystrophy revealed

Date:
August 8, 2012
Source:
Cell Press
Summary:
The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as sleepiness, memory problems, and mental retardation. A new mouse model reported reproduces key cognitive and behavioral symptoms of this disease and could be used to develop drug treatments, which are currently lacking.

The red dots are the toxic RNAs accumulating in the nucleus (blue) of a myotonic dystrophy cell (these are induced pluripotent stem, or iPS, cells) and the green is a neuronal marker.
Credit: Charizanis et al., Neuron.

The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study published by Cell Press. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as excessive daytime sleepiness, memory problems, and mental retardation. A new mouse model reported in the August 9 issue of the journal Neuron reproduces key cognitive and behavioral symptoms of this disease and could be used to develop drug treatments, which are currently lacking.

"The new animal model reproduces important aspects of myotonic dystrophy brain disease, so this model may be useful to develop biomarkers and test future drug therapies," says senior study author Maurice Swanson of the University of Florida.

Previous studies had shown that mutated genes underlying the disease produce toxic ribonucleic acids (RNAs) during transcription, and these RNAs cause the production of incorrect forms of proteins in muscle tissue by blocking the actions of a protein called MBNL1. As a result, proteins typically found in fetal muscles increase in abundance, while the normal suite of proteins found in adult muscles decrease in number. However, until now, it was not clear whether molecular abnormalities similar to those in muscle tissue of individuals with mytonic dystrophy also occur in the brain, resulting in the cognitive neurological problems.

In the new study, Swanson and his team focused on a related protein called MBNL2, which is found in the brain. They developed a new mouse model that lacked a functional Mbnl2 gene. These animals experienced an increase in the amount of rapid eye movement sleep as well as learning and memory deficits, similar to human patients.

The researchers also found extensive evidence of toxic RNAs in the hippocampus, as well as signs that fetal proteins were being produced in the brains of adult mutants. This pattern was also evident in the autopsied brain tissue of humans who had myotonic dystrophy. "This study should accelerate our understanding of how myotonic dystrophy mutations impact brain development and function," Swanson says.


Story Source:

The above story is based on materials provided by Cell Press. Note: Materials may be edited for content and length.


Journal Reference:

  1. Konstantinos Charizanis, Kuang-Yung Lee, Ranjan Batra, Marianne Goodwin, Chaolin Zhang, Yuan Yuan, Lily Shiue, Melissa Cline, Marina M. Scotti, Guangbin Xia, Ashok Kumar, Tetsuo Ashizawa, H. Brent Clark, Takashi Kimura, Masanori P. Takahashi, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa, Mário Gomes-Pereira, Genevičve Gourdon, Noriaki Sakai, Seiji Nishino, Thomas C. Foster, Manuel Ares, Robert B. Darnell, Maurice S. Swanson. Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy. Neuron, 2012; 75 (3): 437 DOI: 10.1016/j.neuron.2012.05.029

Cite This Page:

Cell Press. "Underlying causes of impaired brain function in muscular dystrophy revealed." ScienceDaily. ScienceDaily, 8 August 2012. <www.sciencedaily.com/releases/2012/08/120808121804.htm>.
Cell Press. (2012, August 8). Underlying causes of impaired brain function in muscular dystrophy revealed. ScienceDaily. Retrieved August 27, 2014 from www.sciencedaily.com/releases/2012/08/120808121804.htm
Cell Press. "Underlying causes of impaired brain function in muscular dystrophy revealed." ScienceDaily. www.sciencedaily.com/releases/2012/08/120808121804.htm (accessed August 27, 2014).

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