Control of Retinal Development by Tumor Suppressor Genes

Cantrup, Robert; Kaushik, Gaurav; Schuurmans, Carol

doi:10.5772/28870

Cited by 3 publications

(3 citation statements)

References 128 publications

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“…SIP1 protein encoded by ZEB2 gene has direct and indirect influence on retinal cells development. Multiple studies define the development of the retina as a consequence of differentiation of multipotent progenitor cell into the specific progeny cell, while simultaneously, some cells are generated in direct restricted manner [ 20 , 21 , 22 ]. Cells generated by this process are constituents of different neural retinal layers.…”

Section: Discussionmentioning

confidence: 99%

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome

2023

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Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been described so far. Pathologies such as optic nerve or retinal epithelium atrophy, iris or optic disc coloboma as well as congenital cataracts have been most frequently described until now. Therefore, we would like to report the first case of bilateral developmental cataract in a 9-year-old girl with MWS who underwent successful cataract surgery with intraocular lens implantation. Case Presentation: A 9-year-old girl, diagnosed with p.Gln694Ter mutation in ZEB2 gene and suspicion of MWS was referred to the Children’s Outpatient Ophthalmology Clinic for ophthalmological evaluation. Her previous assessments revealed abnormalities of the optic nerve discs. The patient was diagnosed with atrophy of the optic nerves, convergent strabismus, and with-the-rule astigmatism. One year later, during the follow-up visit, the patient was presented with decreased visual acuity (VA), developmental total cataract in the right eye and a developmental partial cataract in the left eye. This resulted in decreased VA confirmed by deteriorated responses in visual evoked potential (VEP) test. The girl underwent a two-stage procedure of cataract removal, first of one eye and then of the other eye with artificial lens implants. In the 2 years following the operation, no complications were observed and, most remarkably, VA improved significantly. Conclusions: The ZEB2 gene is primarily responsible for encoding the Smad interaction protein 1 (SIP1), which is involved in the proper development of various eye components. When mutated, it results in multilevel abnormalities, also in the proper lens formation, that prevent the child from normal vision development. This typically results in the formation of congenital cataracts in children with MWS syndrome, however, our case shows that it also leads to the formation of developmental cataracts. This is presumably due to the effect of the lack of SIP1 on other genes, altering their downstream expression and is a novel insight into the importance of the SIP1 in the occurrence of ocular pathologies. To the best of our knowledge, this is the first case of bilateral developmental cataract in the context of MWS. Moreover, a novel mutation (p.Gln694Ter) in the ZEB2 gene was found corresponding to this syndrome entity. This report allows us to gain a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS syndrome patients.

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Section: Discussionmentioning

confidence: 99%

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome

2023

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“…The RGCs are the first cells to differentiate, at approximately Embryonic day 10 (E10) in mice, and extend their axons to form the optic nerve [94]. As development progresses, other cell types differentiate and establish connections within the retina in the following order: horizontal cells, cone photoreceptors, amacrine cells, rod photoreceptors, BPCs, and finally, Müller glial cells [94,95].…”

Section: Retinal Developmentmentioning

confidence: 99%

The Interplay between Neurotransmitters and Calcium Dynamics in Retinal Synapses during Development, Health, and Disease

Boff,

Shrestha,

Madireddy

et al. 2024

IJMS

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The intricate functionality of the vertebrate retina relies on the interplay between neurotransmitter activity and calcium (Ca2+) dynamics, offering important insights into developmental processes, physiological functioning, and disease progression. Neurotransmitters orchestrate cellular processes to shape the behavior of the retina under diverse circumstances. Despite research to elucidate the roles of individual neurotransmitters in the visual system, there remains a gap in our understanding of the holistic integration of their interplay with Ca2+ dynamics in the broader context of neuronal development, health, and disease. To address this gap, the present review explores the mechanisms used by the neurotransmitters glutamate, gamma-aminobutyric acid (GABA), glycine, dopamine, and acetylcholine (ACh) and their interplay with Ca2+ dynamics. This conceptual outline is intended to inform and guide future research, underpinning novel therapeutic avenues for retinal-associated disorders.

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“…Growth stimulation induces expression of cyclins and activates cyclin dependent kinases (CDKs), which are called accelerators and engines in cell cycle progression, respectively. CDKs, in turn, inactivate RB by phosphorylation, leading to expression of E2F target genes by releasing them from suppression by RB during G1 to S phase cell cycle progression ( Figure 2) [13]. In contrast, growth-suppressive signals such as contact inhibition and DNA damage induce expression of CDK inhibitors, which are called brakes in cell cycle progression owing to their ability to inhibit activity of CDKs.…”

Section: Major Tumor-suppressor Pathways 21 the Rb Pathway (Cdk Inhmentioning

confidence: 99%

To Grow, Stop or Die? – Novel Tumor-Suppressive Mechanism Regulated by the Transcription Factor E2F

Ozono¹,

Shoji²,

Ohtani³

2013

Future Aspects of Tumor Suppressor Gene

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Control of Retinal Development by Tumor Suppressor Genes

Cited by 3 publications

References 128 publications

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome

The Interplay between Neurotransmitters and Calcium Dynamics in Retinal Synapses during Development, Health, and Disease

To Grow, Stop or Die? – Novel Tumor-Suppressive Mechanism Regulated by the Transcription Factor E2F

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