Defect of development of ocular vasculature in Glut1/SLC2A1 knockdown in vivo

Zheng, Peng; Romme, Edwin; Spek, Peter J. van der; Dirven, Clemens M.F.; Willemsen, Rob; Kros, Johan M.

doi:10.4161/cc.10.11.15754

Cited by 5 publications

(2 citation statements)

References 6 publications

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“…Still, it is clear that a ~50% loss of Glut1 does not impair the blood–brain barrier (BBB) . In contrast, severe (>90% knockdown) of Glut1, as effected in a zebrafish model, not only resulted in loss of cerebral endothelial cells, downregulation of tight‐junction proteins that ensure an intact BBB and thus vasogenic edema, but also a disruption of the ocular vasculature . However, such profound loss of Glut1 is not a characteristic of the human disease, and the pathology observed in the fish model, while instructive, is unlikely to be reflective of human Glut1 DS.…”

Section: The Pathology Of Glut1 Ds: Outcomes From the Study Of Model mentioning

confidence: 99%

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Tang

Park

Vivo

et al. 2019

Ann Clin Transl Neurol

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Proper development and function of the mammalian brain is critically dependent on a steady supply of its chief energy source, glucose. Such supply is mediated by the glucose transporter 1 (Glut1) protein. Paucity of the protein stemming from mutations in the associated SLC2A1 gene deprives the brain of glucose and triggers the infantile‐onset neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). Considering the monogenic nature of Glut1 DS, the disease is relatively straightforward to model and thus study. Accordingly, Glut1 DS serves as a convenient paradigm to investigate the more general cellular and molecular consequences of brain energy failure. Here, we review how Glut1 DS models have informed the biology of a prototypical brain energy failure syndrome, how these models are facilitating the development of promising new treatments for the human disease, and how important insights might emerge from the study of Glut1 DS to illuminate the myriad conditions involving the Glut1 protein.

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Section: The Pathology Of Glut1 Ds: Outcomes From the Study Of Model mentioning

confidence: 99%

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Tang

Park

Vivo

et al. 2019

Ann Clin Transl Neurol

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“…It is also elusive whether loss of GLUT1 can lead to BBB breakdown in AD as it does in the lower vertebrates. 83…”

Section: Glucose Transportmentioning

confidence: 99%

Cerebrospinal Fluid Biomarkers of Neurovascular Dysfunction in Mild Dementia and Alzheimer'S Disease

Sweeney

Sagare

Zloković

2015

J Cereb Blood Flow Metab

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Alzheimer's disease (AD) is the most common form of age-related dementias. In addition to genetics, environment, and lifestyle, growing evidence supports vascular contributions to dementias including dementia because of AD. Alzheimer's disease affects multiple cell types within the neurovascular unit (NVU), including brain vascular cells (endothelial cells, pericytes, and vascular smooth muscle cells), glial cells (astrocytes and microglia), and neurons. Thus, identifying and integrating biomarkers of the NVU cell-specific responses and injury with established AD biomarkers, amyloid-β (Aβ) and tau, has a potential to contribute to better understanding of the disease process in dementias including AD. Here, we discuss the existing literature on cerebrospinal fluid biomarkers of the NVU cell-specific responses during early stages of dementia and AD. We suggest that the clinical usefulness of established AD biomarkers, Aβ and tau, could be further improved by developing an algorithm that will incorporate biomarkers of the NVU cell-specific responses and injury. Such biomarker algorithm could aid in early detection and intervention as well as identify novel treatment targets to delay disease onset, slow progression, and/or prevent AD.

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Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

Pearson

Akman

Hinton

et al. 2013

Curr Neurol Neurosci Rep

194

181

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Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment, and mixed motor abnormalities including spasticity, ataxia, and dystonia. The clinical condition is caused by impaired glucose transport across the blood brain barrier. The past 5 years have seen a dramatic expansion in the range of clinical syndromes that are recognized to occur with Glut1 DS. In particular, there has been greater recognition of milder phenotypes. Absence epilepsy and other idiopathic generalized epilepsy syndromes may occur with seizure onset in childhood or adulthood. A number of patients present predominantly with movement disorders, sometimes without any accompanying seizures. In particular, paroxysmal exertional dyskinesia is now a well-documented clinical feature that occurs in individuals with Glut1 DS. A clue to the diagnosis in patients with paroxysmal symptoms may be the triggering of episodes during fasting or exercise. Intellectual impairment may range from severe to very mild. Awareness of the broad range of potential clinical phenotypes associated with Glut1 DS will facilitate earlier diagnosis of this treatable neurologic condition. The ketogenic diet is the mainstay of treatment and nourishes the starving symptomatic brain during development.

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Defect of development of ocular vasculature in Glut1/SLC2A1 knockdown in vivo

Cited by 5 publications

References 6 publications

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Cerebrospinal Fluid Biomarkers of Neurovascular Dysfunction in Mild Dementia and Alzheimer'S Disease

Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

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