Abstract #3496
Creatine metabolism disorder leads to structural and physiological abnormalities in the brain of Creatine Transporter KO mice.
Devashish Das 1 , Chi-Un Choe 2 , Malte Stockebrand 2 , Andor Veltien 1 , Houshang AmiriDoumari 1 , Dirk Isbrandt 2 , and Arend Heerschap 1
1
Radboud University Medical Center, Nijmegen,
Nijmegen, Netherlands,
2
Center
for Molecular Neurobiology Hamburg, University Medical
Center Hamburg-Eppendorf, Hamburg, Germany
In human, mutations in creatine transporter (CrT) gene
can damage brain microstructure, and thereby corrupts
its function. A variety of genetic and Magnetic
resonance spectroscopic imaging (MRSI) tools are
available for diagnosis of CrT patients. Despite which
the onset of brain damage in human cannot be predicted.
We independently developed CrT-KO mice for delineating
those molecular and physiological mechanisms, which
remain unexplained in previous MRI-studies on CrT
patients.
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