Glaucoma as a Neurodegenerative Disease Caused by Intrinsic Vulnerability Factors

Castro, Ana Artero; Rodríguez‐Jiménez, Francisco Javier; Jendelová, Pavla; VanderWall, Kirstin B.; Meyer, Jason S.; Erceg, Slaven

doi:10.1016/j.pneurobio.2020.101817

Cited by 32 publications

(17 citation statements)

References 66 publications

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“…Whereas, Glaucoma is a progressive optic nerve degeneration, causes irreversible blindness and has been categorised within the group of neurodegenerative diseases. Although both the diseases have different causes, symptoms and genes responsible to occur are also different, but researchers found similarities of mechanistic and pathophysiologic features between Glaucoma and other diseases related to neurodegeneration like PD [30]. Reported research studies have enough evidences for glaucoma patients to have subsequent risk to get Parkinson's disease [45].…”

Section: Discussionmentioning

confidence: 99%

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Investigation of Codon Alternation Patterns in Genetic Diseases through Numerical Representation and Codon Classification

Sengupta¹,

Choudhury

Chakraborty

et al. 2020

Preprint

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Motivation: Alteration of amino acid is possible due to mutation in codons that could have a potential impact in a diseased condition. Effective mutation analysis can help to predict the fate of the diseased individual which can be validated later by in-vitro experimentations. It may also help an individual who is asymptomatic but having a particular genetic change for early detection and diagnosis during any terminal diseases. We try to investigate the codon alteration patterns and its impact during mutation for the genes known to be responsible for a particular disease.Results: For our current study, we consider neurodegenerative and monogenic diseases. We use numerical representation based on a determinative degree and classification of codons as well as amino acids into three different classes (Strong, Weak and Transition) for the analysis. Our analysis reveals that the strong class codons are highly mutated followed by weak and transition class. We observe that most of the mutations occur in the first or second positions in the codon rather than the third. While looking into the chemical properties of amino acid, we observe that amino acids belong to the aliphatic group are affected most during missense mutations. Our investigation further emphasises that in most of the cases the change in the determinative degree of codon due to mutation is directly proportional to the physical density property. In addition, our scheme gives a more microscopic and alternative representation of the existing codon table that helps in deciphering interesting codon alteration patterns during mutations in disease pathogenesis.

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Section: Discussionmentioning

confidence: 99%

“…MYOC (myocilin) and CYP1B1 are two significant genes responsible for occurring this disease. Now-a-days it is categorised under neurodegenerative disease [30]. People having Glaucoma have greater risk to get Parkinson's disease.…”

Section: Introductionmentioning

confidence: 99%

Investigation of Codon Alternation Patterns in Genetic Diseases through Numerical Representation and Codon Classification

Sengupta¹,

Choudhury

Chakraborty

et al. 2020

Preprint

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“…Uveitis glaucoma, pigmentary glaucoma, and normal-tension glaucoma (NTG) are classified as secondary types of glaucoma [26]. Primarily, PACG is caused by elevation of the intraocular aqueous humor outflow at the closure angle, caused by mechanical occlusion of the iris tissue [24,25], or blockage of the Schlemm canal, as shown in Figure 3. Uveitis glaucoma, pigmentary glaucoma, and normal-tension glaucoma (NTG) are classified as secondary types of glaucoma [26].…”

Section: Figure 2 Open-angle Glaucoma (Chronic)mentioning

confidence: 99%

Intravitreal Injectable Hydrogels for Sustained Drug Delivery in Glaucoma Treatment and Therapy

Akulo¹,

Adalı

Moyo³

et al. 2022

Polymers

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Glaucoma is extensively treated with topical eye drops containing drugs. However, the retention time of the loaded drugs and the in vivo bioavailability of the drugs are highly influenced before reaching the targeted area sufficiently, due to physiological and anatomical barriers of the eye, such as rapid nasolacrimal drainage. Poor intraocular penetration and frequent administration may also cause ocular cytotoxicity. A novel approach to overcome these drawbacks is the use of injectable hydrogels administered intravitreously for sustained drug delivery to the target site. These injectable hydrogels are used as nanocarriers to intimately interact with specific diseased ocular tissues to increase the therapeutic efficacy and drug bioavailability of the anti-glaucomic drugs. The human eye is very delicate, and is sensitive to contact with any foreign body material. However, natural biopolymers are non-reactive, biocompatible, biodegradable, and lack immunogenic and inflammatory responses to the host whenever they are incorporated in drug delivery systems. These favorable biomaterial properties have made them widely applicable in biomedical applications, with minimal adversity. This review highlights the importance of using natural biopolymer-based intravitreal hydrogel drug delivery systems for glaucoma treatment over conventional methods.

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“…There are many other DEGs that we were unable to cover in the scope of this review but may ultimately play important roles in neuroprotection. Several key review articles have previously organized and described relevant genes and molecular mechanisms of neurodegeneration in glaucoma (142)(143)(144). Most recently, Wang et al (145) have also summarized commonly upregulated or downregulated genes by comparing transcriptomic data in several glaucoma mouse models and optic nerve crush models, most of which we have also included in this review.…”

Section: Concluding Marksmentioning

confidence: 99%

Differential Retinal Ganglion Cell Vulnerability, A Critical Clue for the Identification of Neuroprotective Genes in Glaucoma

Amin

Kuwajima²

2022

Front. Ophthalmol.

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Retinal ganglion cells (RGCs) are the neurons in the retina which directly project to the brain and transmit visual information along the optic nerve. Glaucoma, one of the leading causes of blindness, is characterized by elevated intraocular pressure (IOP) and degeneration of the optic nerve, which is followed by RGC death. Currently, there are no clinical therapeutic drugs or molecular interventions that prevent RGC death outside of IOP reduction. In order to overcome these major barriers, an increased number of studies have utilized the following combined analytical methods: well-established rodent models of glaucoma including optic nerve injury models and transcriptomic gene expression profiling, resulting in the successful identification of molecules and signaling pathways relevant to RGC protection. In this review, we present a comprehensive overview of pathological features in a variety of animal models of glaucoma and top differentially expressed genes (DEGs) depending on disease progression, RGC subtypes, retinal regions or animal species. By comparing top DEGs among those different transcriptome profiles, we discuss whether commonly listed DEGs could be defined as potential novel therapeutic targets in glaucoma, which will facilitate development of future therapeutic neuroprotective strategies for treatments of human patients in glaucoma.

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Glaucoma as a Neurodegenerative Disease Caused by Intrinsic Vulnerability Factors

Cited by 32 publications

References 66 publications

Investigation of Codon Alternation Patterns in Genetic Diseases through Numerical Representation and Codon Classification

Investigation of Codon Alternation Patterns in Genetic Diseases through Numerical Representation and Codon Classification

Intravitreal Injectable Hydrogels for Sustained Drug Delivery in Glaucoma Treatment and Therapy

Differential Retinal Ganglion Cell Vulnerability, A Critical Clue for the Identification of Neuroprotective Genes in Glaucoma

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