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C-3041 - MRI analysis of Mtss1-deficient mice identifies a new candidate gene in the development of hydrocephalus

B. Wieners, M. Vasyukov, V. C. Keil, J. Gieseke, S. L. Baader, E. Hattingen, H. Schild, K. Schilling, B. Eiberger; Bonn/DE Type: Scientific Exhibit
Area of Interests: Animal (veterinary) studies, Neuroradiology brain
Imaging Technique: MR
Procedure: Statistics
Special Focuses: Congenital, Dilatation, Cerebrospinal fluid
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Aims and objectives: Congenital hydrocephalus, the accumulation of excess cerebrospinal fluid (CSF) in the ventricles of the brain, affects one in every 1000 children born today, making it one of the most common human developmental disorders. Hydrocephalus is classified as either communicative, in which there is no phys[...]

Methods and materials: Animals Mtss1-deficient mice were kindly provided by Dr. Rong Li, The Stowers Institute for Medical Research, Kansas City, MO, USA and have been described previously (Xia et al., 2010). All animals used for the present experiments were maintained on a mixed, predominantly C57/Bl6 genetic backgroun[...]

Results: Loss of Mtss1 leads to increased volume of the lateral ventricles Mtss1-deficient mice showed significantly enlarged lateral ventricles (deficient: 21.2mm³ vs wildtype: 6.6mm³; p<.0001, Fig. 2 ) but no stenosis of the Sylvian aqueduct. CSF diapedesis which is characteristic for a[...]

Conclusion: In this study, we identified Mtss1 as a so far unknown candidate gene for the development of congenital, communicating hydrocephalus.   We could show that Mtss1-deficency impairs ciliary function as the ependymal flow in live mouse brain preparations is decreased in speed and directionality in [...]

Personal information: Barbara Wieners, Institute of Anatomy, Anatomy and Cell Biology, University of Bonn, Nussallee 10, 53115 Bonn, Germany medical student, email: s4bawien@uni-bonn.de Maksym Vasyukov, Institute of Anatomy, Anatomy and Cell Biology, University of Bonn, Nussallee 10, 53115 Bonn, Germany   Vera C. [...]

References: 1. Maria Kousi and Nicholas Katsanis. The Genetic Basis of Hydrocephalus. Annu. Rev. Neurosci. 2016;39:409–35. 2. Boglarka Banizs, Martin M. Pike, C. Leigh Millican, William B. Ferguson, Peter Komlosi, James Sheetz, Phillip D. Bell, Erik M. Schwiebert and Bradley K. Yoder et al. Dysfunct[...]

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