GM1 and GM2 gangliosides: recent developments

Bisel, Blaine; Pavone, Francesco S.; Calamai, Martino

doi:10.1515/bmc-2013-0039

Cited by 23 publications

(15 citation statements)

References 51 publications

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“…Many other disturbances of ganglioside metabolism in humans caused by deficiency of enzymes are associated with neurological disease, leading to uncontrolled accumulation in the brain often with severe consequences (reviewed elsewhere [ 9 , 30 , 51 ]). In addition to the well-established spectrum of disorders known as gangliosidoses that includes Tay-Sachs disease, Sandhoff disease, and GM1a gangliosidoses, GM1a and GM2 in the brain are also involved in other neurological conditions including Alzheimer’s, Huntington’s and Parkinson’s diseases [ 52 ]. There are also implications of a role of gangliosides in other conditions including infection, inflammation, insulin metabolism and cancer [ 52 , 53 , 54 ].…”

Section: Role Of Gangliosides In Neurodevelopment and Neuro-maintementioning

confidence: 99%

“…In addition to the well-established spectrum of disorders known as gangliosidoses that includes Tay-Sachs disease, Sandhoff disease, and GM1a gangliosidoses, GM1a and GM2 in the brain are also involved in other neurological conditions including Alzheimer’s, Huntington’s and Parkinson’s diseases [ 52 ]. There are also implications of a role of gangliosides in other conditions including infection, inflammation, insulin metabolism and cancer [ 52 , 53 , 54 ]. From a therapeutic point of view, clinical trials have shown that injected ganglioside GM1a was able to remediate symptoms of Parkinson’s disease [ 55 ] and acute ischaemic stroke [ 56 ], and also enhance neurological repair after spinal cord injury [ 57 ].…”

Section: Role Of Gangliosides In Neurodevelopment and Neuro-maintementioning

confidence: 99%

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The Role of Gangliosides in Neurodevelopment

Palmano¹,

Rowan

Guillermo³

et al. 2015

Nutrients

141

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Gangliosides are important components of neuronal cell membranes and it is widely accepted that they play a critical role in neuronal and brain development. They are functionally involved in neurotransmission and are thought to support the formation and stabilization of functional synapses and neural circuits required as the structural basis of memory and learning. Available evidence, as reviewed herein, suggests that dietary gangliosides may impact positively on cognitive functions, particularly in the early postnatal period when the brain is still growing. Further, new evidence suggests that the mechanism of action may be through an effect on the neuroplasticity of the brain, mediated through enhanced synaptic plasticity in the hippocampus and nigro-striatal dopaminergic pathway.

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Section: Role Of Gangliosides In Neurodevelopment and Neuro-maintementioning

confidence: 99%

Section: Role Of Gangliosides In Neurodevelopment and Neuro-maintementioning

confidence: 99%

The Role of Gangliosides in Neurodevelopment

Palmano¹,

Rowan

Guillermo³

et al. 2015

Nutrients

141

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“…The pathogenic pathway by which GM1 storage leads to cell death involves both the accumulation of toxic products causing inflammatory response and of aberrant mitochondria 1 , a pathogenic pathway common to many neurodegenerative diseases 1 . Also, misregulation of GM1 content is directly involved in Huntington’s and Parkinson’s diseases, in cancer stem cells and in a cancer model in mice 2 .…”

Section: Introductionmentioning

confidence: 99%

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

Tonin

Caciotti

Procopio

et al. 2019

Sci Rep

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GM1 ganglioside, a monosialic glycosphingolipid and a crucial component of plasma membranes, accumulates in lysosomal storage disorders, primarily in GM1 gangliosidosis. The development of biomarkers for simplifying diagnosis, monitoring disease progression and evaluating drug therapies is an important objective in research into neurodegenerative lysosomal disorders. With this in mind, we established fluorescent imaging and flow-cytometric methods to track changes in GM1 ganglioside levels in patients with GM1 gangliosidosis and in control cells. We also evaluated GM1 ganglioside content in patients’ cells treated with the commercially available Miglustat, a substrate inhibitor potentially suitable for the treatment of late-onset GM1 gangliosidosis. The flow-cytometric method proved to be sensitive, unbiased, and rapid in determining variations in GM1 ganglioside content in human lymphocytes derived from small amounts of fresh blood. We detected a strong correlation between GM1 ganglioside content and the clinical severity of GM1 gangliosidosis. We confirm the ability of Miglustat to act as a substrate reduction agent in the patients’ treated cells. As well as being suitable for diagnosing and managing patients with GM1 gangliosidosis this method could be useful in the diagnosis and management of other lysosomal diseases, such as galactosialidosis, Type C Niemann-Pick, and any other disease with pathologic variations of GM1 ganglioside.

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“…(37) Gangliosides are found in all plasma membranes, but are most abundant in neurons, where they represent 5-10% of the total lipid mass. (37,39) Gangliosides suffer catabolism through the lysosomal degradation pathway, where they are sequentially degraded by a series of hydrolytic enzymes assisted by lipid-binding proteins. 39Research on molecular pathogenesis and the development of possible treatments for TSD based on the pathophysiological mechanism are limited due to the fact that endogenous accumulation of GM2 is not observed in the peripheral cells of the patients.…”

Section: Definitionmentioning

confidence: 99%

Tay-Sachs disease

Gualdrón-Frias

Calderón-Nossa

2019

Rev. Fac. Med.

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Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three forms.Objective: To perform a review of the state of the art on TSD describing its definition, epidemiology, etiology, physiopathology, clinical manifestations and news in diagnosis and treatment.Materials and methods: A literature search was carried out in PubMed using the MeSH terms “Tay-Sachs Disease”.Results: 1 233 results were retrieved in total, of which 53 articles were selected. TSD is caused by the deficiency of the lysosomal enzyme β-hexosaminidase A (HexA), and is characterized by neurodevelopmental regression, hypotonia, hyperacusis and cherry-red spots in the macula. Research on molecular pathogenesis and the development of possible treatments has been limited, consequently there is no treatment established to date.Conclusion: TSD is an autosomal recessive neurodegenerative disorder. Death usually occurs before the age of five. More research and studies on this type of gangliosidosis are needed in order to find an adequate treatment.

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GM1 and GM2 gangliosides: recent developments

Cited by 23 publications

References 51 publications

The Role of Gangliosides in Neurodevelopment

The Role of Gangliosides in Neurodevelopment

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

Tay-Sachs disease

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