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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Structural white matter networks in myotonic dystrophy type 1
Maud van Dorst1, Kees Okkersen2, Roy P C Kessels3
1Department of Medical Psychology, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands; Vincent van Gogh Institute of Psychiatry, Stationsweg 46, 5803 AC Venray, the Netherlands.
Myotonic dystrophy type 1 (DM1) involves brain network changes, specifically in white matter integrity and organization. These structural alterations correlate with cognitive deficits, suggesting DM1 is a complex brain network disorder.
Area of Science:
- Neuroscience
- Neurology
- Medical Imaging
Background:
- Myotonic dystrophy type 1 (DM1) presents with diverse neuropsychiatric symptoms.
- These symptoms may stem from disruptions in complex brain network interactions at a structural level.
Purpose of the Study:
- To investigate white matter microstructural integrity and network organization in DM1 patients.
- To determine if these alterations correlate with central nervous system (CNS) related disease manifestations in DM1.
Main Methods:
- Cross-sectional study involving 25 DM1 patients and 26 controls.
- Neuropsychological assessment and brain MRI, including diffusion tensor imaging (DTI) and tract-based spatial statistics (TBSS).
- Graph theoretical analysis applied to structural networks derived from DTI data.
Main Results:
- DM1 patients exhibited reduced global efficiency, local efficiency, and strength in white matter networks.
- Increased white matter hyperintensity load and diffuse alterations in white matter microstructure were observed.
- DTI and network measures correlated with attention, motor skills, and visual-constructional abilities, but not fatigue or apathy.
Conclusions:
- The study supports the view of DM1 as a complex network disorder affecting the brain.
- Alterations in white matter networks are characteristic of DM1 and may be linked to neuropsychological deficits.
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