A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism.

Frontiers in Physiology
Malte StockebrandChi-Un Choe

Abstract

Creatine serves as fast energy buffer in organs of high-energy demand such as brain and skeletal muscle. L-Arginine:glycine amidinotransferase (AGAT) and guanidinoacetate N-methyltransferase are responsible for endogenous creatine synthesis. Subsequent uptake into target organs like skeletal muscle, heart and brain is mediated by the creatine transporter (CT1, SLC6A8). Creatine deficiency syndromes are caused by defects of endogenous creatine synthesis or transport and are mainly characterized by intellectual disability, behavioral abnormalities, poorly developed muscle mass, and in some cases also muscle weakness. CT1-deficiency is estimated to be among the most common causes of X-linked intellectual disability and therefore the brain phenotype was the main focus of recent research. Unfortunately, very limited data concerning muscle creatine levels and functions are available from patients with CT1 deficiency. Furthermore, different CT1-deficient mouse models yielded conflicting results and detailed analyses of their muscular phenotype are lacking. Here, we report the generation of a novel CT1-deficient mouse model and characterized the effects of creatine depletion in skeletal muscle. HPLC-analysis showed strongly reduced tot...Continue Reading

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Citations

Mar 19, 2020·International Journal of Molecular Sciences·Märit JensenChi-Un Choe
Nov 17, 2020·Frontiers in Synaptic Neuroscience·Clemens V FarrSonja Sucic
Jan 4, 2021·Journal of Inherited Metabolic Disease·Adam M WawroThomas J Montine
Sep 7, 2021·Frontiers in Physiology·Juliane HannemannEdzard Schwedhelm

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Methods Mentioned

BETA
biopsies
PCR
protein assay
biopsy

Software Mentioned

ARRIVE
GraphPad Prism
ImageJ

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