Functional retinal changes in Gaucher disease

Seidova, Seid-Fatima; Kotliar, Konstantin; Foerger, Frauke; Klöpfer, Matthias; Lanzl, Ines

doi:10.1007/s10633-008-9142-9

Cited by 26 publications

(15 citation statements)

References 5 publications

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“…GlcCer accumulation in patients with Gaucher's disease ultimately results in vision loss due to retinal neuronal cell death ( 11 ). As mentioned before, elevated GlcCer seems to be a major mediator of diabetic retinopathy, signaling stress responses and/or insulin resistance and contributing to the pathogenesis of diabetic retinopathy; inhibition of GlcCer synthesis increases insulin sensitivity in retinal neurons and reduces neuronal death in the diabetic rat retina ( 135 ).…”

Section: Glucosylceramide In the Eyementioning

confidence: 88%

“…Due to its chemical structure that allows for tight packing, Cer regulates membrane properties, enzymes responsible for their degradation, occurs in several inherited diseases, and is often associated with retinal impairment and vision loss due to retina neuronal cell death (8)(9)(10)(11); however, the mechanisms leading to this death are uncertain. In this review, we will focus on the socalled "simple sphingolipids" Cer, Sph, and S1P, as opposed to sphingolipids with more complex headgroups ( 12 ).…”

Section: Cer a Deadly Second Messengermentioning

confidence: 99%

See 1 more Smart Citation

Regulating survival and development in the retina: key roles for simple sphingolipids

Rotstein

Miranda

Abrahan

et al. 2010

Journal of Lipid Research

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tions as structural membrane components and energetic fuels. However, the fi ndings of the previous half century have extended these roles, shedding light on their indisputable relevance as signaling molecules controlling key aspects of cellular life and development. The identifi cation of diacylglycerol and inositol 1,4,5 triphosphate ( 1 ) as second messengers seemed at the time a peculiarity of these lipids. The subsequent fi ndings of the roles of arachidonic acid metabolites ( 2 ), platelet activating factor ( 3 ), and other minor inositol lipids ( 4 ) in cell signaling began to establish that being intracellular messengers was not an oddity but a habitual task for lipids in cells. The family of lipid signaling molecules largely expanded in the last two decades, when several sphingolipids were successively shown to regulate a multiplicity of cell functions. Sphingosine (Sph) was the fi rst sphingolipid to be established as a bioactive lipid, involved in the regulation of protein kinase (PK)C activity ( 5 ). Ceramide (Cer) and sphingosine-1-phosphate (S1P) were next shown to signal a myriad of cell functions and the number of sphingolipid molecules with bioactive properties has gone on enlarging in recent years ( 6, 7 ).Though a vast literature exists on the functions of sphingolipids in several tissues, less is known concerning its roles in the eye, and in the retina in particular. Accumulation of sphingolipids originated in defects in the lysosomal Abstract Many sphingolipids have key functions in the regulation of crucial cellular processes. Ceramide (Cer) and sphingosine (Sph) induce growth arrest and cell death in multiple situations of cellular stress. On the contrary, sphingosine-1-phosphate (S1P), the product of Sph phosphorylation, promotes proliferation, differentiation, and survival in different cell systems. This review summarizes the roles of these simple sphingolipids in different tissues and then analyzes their possible functions in the retina. Alterations in proliferation, neovascularization, differentiation, and cell death are critical in major retina diseases and collective evidence points to a role for sphingolipids in these processes. Cer induces infl ammation and apoptosis in endothelial and retinal pigmented epithelium cells, leading to several retinopathies. S1P can prevent this death but also promotes cell proliferation that might lead to neovascularization and fibrosis. Recent data support Cer and Sph as crucial mediators in the induction of photoreceptor apoptosis in diverse models of oxidative damage and neurodegeneration, and suggest that regulating their metabolism can prevent this death. New evidence proposes a central role for S1P controlling photoreceptor survival and differentiation. Finally, this review discusses the ability of trophic factors to regulate sphingolipid metabolism and transactivate S1P signaling pathways to control survival and development in retina photoreceptors. When asked about the roles of cellular lipids, the fi rst thought usually coming to our minds re...

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Section: Glucosylceramide In the Eyementioning

confidence: 88%

Section: Cer a Deadly Second Messengermentioning

confidence: 99%

Regulating survival and development in the retina: key roles for simple sphingolipids

Rotstein

Miranda

Abrahan

et al. 2010

Journal of Lipid Research

View full text Add to dashboard Cite

show abstract

“…Esto probablemente se deba a que estos medicamentos no pasan la barrera hematorretiniana (28,45). Sin embargo, en 1998 se informó el caso de una paciente de 42 años con EG tipo 1 homocigótica para la mutación N370S, quien presentaba disminución de la agudeza visual del campo izquierdo de 9 meses de duración.…”

Section: Tratamiento De Las Manifestaciones Ocularesunclassified

Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema

Mejía-Turizo

Rojas-Múnera

Orrego-Betancur

et al. 2017

iatreia

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“…3 This was the only included study to examine measures to avert the development of recurrent corneal erosion following traumatic corneal abrasion; clearly more studies are needed as a range of treatment options are available for traumatic corneal erosions. 5,6 It is common practice to treat a traumatic corneal abrasion with antibiotic and/or lubricating ointment; however, such therapy is not always continued for months. '…”

Section: Systematic Review On Interventions For Recurrentmentioning

confidence: 99%

“…[3][4][5] The pathophysiology of the retinal Gaucher cells is yet to be explained, but the accumulation of higher levels of circulating glucosylceramide in unusual systemic locations has been suggested as causal. 5 Progression over time was only reported by Stark 6 who described chalk-white spots of varying sizes mainly located peripherally without foveal interference. In our case, the reported lesions did not shrink despite glucocerebrosidase replacement possibly explaining the immune-privilege enjoyed by the eye, which prevents such large proteins from crossing the blood-brain barrier.…”

Section: Commentmentioning

confidence: 99%