NDLI: Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?

Content Provider	Springer Nature Link
Author	Hanna El Daher, Layane Braissant, Olivier
Copyright Year	2016
Abstract	While it has long been thought that most of cerebral creatine is of peripheral origin, the last 20 years has provided evidence that the creatine synthetic pathway (AGAT and GAMT enzymes) is expressed in the brain together with the creatine transporter (SLC6A8). It has also been shown that SLC6A8 is expressed by microcapillary endothelial cells at the blood–brain barrier, but is absent from surrounding astrocytes, raising the concept that the blood–brain barrier has a limited permeability for peripheral creatine. The first creatine deficiency syndrome in humans was also discovered 20 years ago (GAMT deficiency), followed later by AGAT and SLC6A8 deficiencies, all three diseases being characterized by creatine deficiency in the CNS and essentially affecting the brain. By reviewing the numerous and latest experimental studies addressing creatine transport and synthesis in the CNS, as well as the clinical and biochemical characteristics of creatine-deficient patients, our aim was to delineate a clearer view of the roles of the blood–brain and blood-cerebrospinal fluid barriers in the transport of creatine and guanidinoacetate between periphery and CNS, and on the intracerebral synthesis and transport of creatine. This review also addresses the question of guanidinoacetate toxicity for brain cells, as probably found under GAMT deficiency.
Starting Page	1877
Ending Page	1895
Page Count	19
File Format	PDF
ISSN	09394451
Journal	Amino Acids
Volume Number	48
Issue Number	8
e-ISSN	14382199
Language	English
Publisher	Springer Vienna
Publisher Date	2016-02-10
Publisher Place	Vienna
Access Restriction	Subscribed
Subject Keyword	Brain Creatine Guanidinoacetate Blood brain barrier Creatine deficiency syndromes AGAT GAMT SLC6A8 Biochemistry Analytical Chemistry Biochemical Engineering Life Sciences Proteomics Neurobiology
Content Type	Text
Resource Type	Article
Subject	Organic Chemistry Biochemistry Clinical Biochemistry

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