Article
Biochemistry & Molecular Biology
Shih-Fang Wu, Chih-Yao Lin, Rong-Kung Tsai, Yao-Tseng Wen, Feng-Huei Lin, Chia-Yu Chang, Ching- Shen, Shinn-Zong Lin, Horng-Jyh Harn, Tzyy-Wen Chiou, Chin-San Liu, Yan-Ting Chen, Hong-Lin Su
Summary: Research found that mitochondrial transplantation can moderately attenuate the degeneration of retinal layers in RCS rats. This result was confirmed through histological examination and OCT measurement of retina thickness. VEP analysis showed that the transmission time of electrical signals after mitochondrial transplantation was similar to the normal value. The results suggest that mitochondrial transplantation can improve the degeneration of photoreceptors in RCS rats and have potential for clinical application.
Article
Biochemistry & Molecular Biology
Yogita Kanan, Sean F. Hackett, Henry T. Hsueh, Mahmood Khan, Laura M. Ensign, Peter A. Campochiaro
Summary: Retinitis pigmentosa (RP) is a genetic disorder that causes rod photoreceptor degeneration and subsequent cone photoreceptor degeneration. Reduced oxygen consumption from the loss of rods leads to retinal hyperoxia and oxidative stress, resulting in cone cell death and degeneration. However, reducing inspired oxygen levels can reduce retinal hyperoxia, preserve cone structure and function, and decrease oxidative damage in animal models of RP.
FREE RADICAL BIOLOGY AND MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Yang Liu, Yafang Wang, Yushu Xiao, Xiaomeng Li, Shang Ruan, Xueting Luo, Xiaoling Wan, Fenghua Wang, Xiaodong Sun
Summary: By establishing a CNGA1 knockout mouse model, researchers observed progressive retinal thinning and functional deficits as typical phenotypes for RP, along with degeneration in rods and cones, microglial activation, and oxidative stress damage. RNA-sequencing analysis indicated down-regulated synaptic transmission and phototransduction as early triggers for photoreceptor degeneration. The study contributes to understanding the mechanisms of photoreceptor death during RP progression and provides a novel model for potential therapeutic development.
Article
Biochemistry & Molecular Biology
Natalia Martinez-Gil, Oksana Kutsyr, Agustina Noailles, Laura Fernandez-Sanchez, Lorena Vidal, Xavier Sanchez-Saez, Carla Sanchez-Castillo, Pedro Lax, Nicolas Cuenca, Antonio G. Garcia, Victoria Maneu
Summary: P2X7R and P2X4R play important roles in retinal diseases and their expression increases during disease progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Anatomy & Morphology
Sohair A. Eltony, Heba S. Mohaseb, Amel A. Ahmed, Manal M. Sayed
Summary: This study aimed to investigate the effect of metformin on the retina of the ENU-induced rat model of RP. The results showed that metformin could reduce retinal degeneration and improve the morphology of glia and blood capillaries. This suggests that metformin has a neuroprotective effect on the retina.
Review
Biochemistry & Molecular Biology
Davide Allegrini, Raffaele Raimondi, Alfredo Borgia, Tania Sorrentino, Giovanni Montesano, Panos Tsoutsanis, Giuseppe Cancian, Yash Verma, Francesco Paolo De Rosa, Mario R. Romano
Summary: Recent evidence suggests that curcumin may be effective in treating retinal diseases by modulating gene transcription, reducing cell apoptosis, and improving vascular function. However, its limited bioavailability has hindered its use.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Geetika Kaur, Nikhlesh K. Singh
Summary: Vision depends on the precise structure and functioning of the retina, and any stress or injury can disrupt it, leading to vision impairment, loss, and blindness. Inflammation plays a crucial role in the development of retinal disorders, such as glaucoma, macular degeneration, diabetic retinopathy, and retinitis pigmentosa. This review provides evidence on the role of inflammation in these disorders and suggests potential therapeutic targets.
NEURAL REGENERATION RESEARCH
(2023)
Review
Medicine, General & Internal
Grazyna Adamus
Summary: Inherited retinal diseases are rare disorders that lead to blindness through various mechanisms including immune responses, gene mutations, and inflammation affecting the death of retinal photoreceptor cells.
FRONTIERS IN MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Enrica Strettoi, Beatrice Di Marco, Noemi Orsini, Debora Napoli
Summary: This article reviews the plasticity of the retina, finding that it has limited plasticity outside the developmental stage. In contrast, the retina is highly adept at maintaining a stable structure and functional organization. The article also discusses the variable rate of structural plasticity in retinal neurons in different circumstances.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Hyeonhee Roh, Yanjinsuren Otgondemberel, Jeonghyeon Eom, Daniel Kim, Maesoon Im
Summary: This study investigates the electric response features of retinal ganglion cells (RGCs) in rd8 mice with retinal degeneration caused by Crb1 mutation. The results show that different types of RGCs have different electric response features in the early stage of RP, suggesting the importance of genotype- and RGC type-dependent analyses for retinal prosthetic research.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Ophthalmology
Yuhong Chen, Jieqiong Chen, Hong Wang, Yang Yu, Wenqiu Wang, Wenjia Liu, Suqin Yu, Yuanyuan Gong, Huixun Jia, Tong Li, Xiaodong Sun
Summary: The prevalence of outer retinal tubulation (ORT) varies among different inherited retinal diseases (IRDs) phenotypes, with the highest prevalence in Bietti crystalline corneoretinal dystrophy (BCD). The presence of choroidal atrophy and inner nuclear layer (INL) cysts may be associated with an increased risk of ORT formation in patients with IRD.
Article
Biochemistry & Molecular Biology
Jie Yan, Alexander Guenter, Soumyaparna Das, Regine Muehlfriedel, Stylianos Michalakis, Kangwei Jiao, Mathias W. Seeliger, Francois Paquet-Durand
Summary: Inherited retinal degenerations (IRDs) are blinding diseases characterized by progressive loss of photoreceptors. The excessive activation of calpain and poly (ADP-ribose) polymerase (PARP) is associated with the pathology of IRDs. Inhibitors of these enzymes have shown promise in preventing photoreceptor cell death. However, the relationship between calpain and PARP in IRDs is still unclear. In this study, organotypic retinal explant cultures were used to investigate the effects of calpain inhibitors, PARP inhibitors, and voltage-gated Ca2+ channel (VGCC) inhibitors on cell death in IRD mice models. The results suggest that PARP acts upstream of calpain and both enzymes are part of the same degenerative pathway in Pde6b-dependent photoreceptor degeneration. Our findings highlight the potential of targeting PARP for therapeutic interventions in IRD-type diseases.
Review
Neurosciences
Fangyuan Zhen, Tongdan Zou, Ting Wang, Yongwei Zhou, Shuqian Dong, Houbin Zhang
Summary: Rhodopsin is a light-sensitive receptor that initiates the phototransduction cascade. Mutations in the rhodopsin-encoding gene are the leading cause of retinitis pigmentosa. The high allelic heterogeneity suggests complex pathogenic mechanisms related to protein misfolding and dysfunction.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Cell & Tissue Engineering
Eric D. Jong, Sabiha Hacibekiroglu, Lily Guo, Evan Sawula, Biao Li, Chengjin Li, Margaret T. Ho, Molly S. Shoichet, Valerie A. Wallace, Andras Nagy
Summary: A combined cell and gene therapy was developed for the treatment of retinitis pigmentosa (RP). Human embryonic stem cells (hESCs) were genetically engineered to differentiate into retinal pigment epithelium (hRPE) cells, which were used to protect and preserve photoreceptor cells in mouse models. This study reveals the potential of this therapy for RP treatment and the possibility of using hRPE cells for long-term delivery of therapeutic biologics.
STEM CELL RESEARCH & THERAPY
(2023)
Article
Genetics & Heredity
Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee, Hyeong Gon Yu
Summary: This study conducted genetic analysis of IRD patients in Korea using WES, identifying various causative genes and providing important reference for future genetic screening and treatment development.
BMC MEDICAL GENOMICS
(2021)
Meeting Abstract
Ophthalmology
Oksana Kutsyr, Agustina Noailles, Natalia Martinez-Gil, Lucia Maestre-Carballa, Manuel Martinez-Garcia, Laura Fernandez-Sanchez, Victoria Maneu, Nicolas Cuenca, Pedro Lax
ACTA OPHTHALMOLOGICA
(2022)
Meeting Abstract
Ophthalmology
Henar Albertos-Arranz, Xavier Sanchez-Saez, Natalia Martinez-Gil, Agustina Noailles Gil, Ramon Calvo Andres, Clara Monferrer Adsuara, Lidia Remoli Sargues, Javier Montero Hernandez, Nicolas Cuenca
ACTA OPHTHALMOLOGICA
(2022)
Review
Clinical Neurology
Jee-Young Lee, Antonio Martin-Bastida, Ane Murueta-Goyena, Inigo Gabilondo, Nicolas Cuenca, Paola Piccini, Beomseok Jeon
Summary: This review highlights the importance of in vivo imaging biomarkers for early diagnosis and monitoring of Parkinson disease (PD). By combining various imaging techniques such as PET, single-photon emission CT, MRI, and retinal optical coherence tomography (OCT), the early diagnosis and management of PD can be aided.
NATURE REVIEWS NEUROLOGY
(2022)
Editorial Material
Cell Biology
Victoria Maneu, Pedro Lax, Nicolas Cuenca
NEURAL REGENERATION RESEARCH
(2022)
Article
Cell Biology
Lorena Perdices, Lorena Fuentes-Broto, Francisco Segura, Ana Cavero, Elvira Orduna-Hospital, Gema Insa-Sanchez, Ana Isabel Sanchez-Cano, Laura Fernandez-Sanchez, Nicolas Cuenca, Isabel Pinilla
Summary: EGCG can protect against retinal degenerative diseases and reduce visual function loss in animal models of RP.
NEURAL REGENERATION RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
Ana Boned-Murillo, Henar Albertos-Arranz, Maria Dolores Diaz-Barreda, Elvira Orduna-Hospital, Ana Sanchez-Cano, Antonio Ferreras, Nicolas Cuenca, Isabel Pinilla
Summary: Optical coherence tomography angiography (OCTA) is an essential tool for the diagnosis and control of diabetic patients, allowing visualization and analysis of the retinal and choroidal microvasculature, and the detection of diabetic retinopathy and other related diseases.
Review
Medicine, Research & Experimental
Victoria Maneu, Pedro Lax, Antonio Miguel G. De Diego, Nicolas Cuenca, Antonio G. Garcia
Summary: This article discusses the multi-target therapy approach for treating retina degenerative diseases, with a focus on common signaling pathways leading to cell death. It suggests the use of combined medicines acting on complementary pathogenic mechanisms and highlights the potential efficacy of this approach compared to single-drug treatments.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Anatomy & Morphology
Laura Fernandez-Sanchez, Henar Albertos-Arranz, Isabel Ortuno-Lizaran, Pedro Lax, Nicolas Cuenca
Summary: The study demonstrates that Tauroursodeoxycholic acid (TUDCA) not only has a neuroprotective effect on photoreceptor cells but also prevents vascular and glial degeneration. This finding provides support for the potential use of TUDCA as a therapy for neurodegenerative diseases.
FRONTIERS IN NEUROANATOMY
(2022)
Review
Biochemistry & Molecular Biology
Isabel Pinilla, Victoria Maneu, Laura Campello, Laura Fernandez-Sanchez, Natalia Martinez-Gil, Oksana Kutsyr, Xavier Sanchez-Saez, Carla Sanchez-Castillo, Pedro Lax, Nicolas Cuenca
Summary: Inherited retinal dystrophies (IRDs) are a group of genetically and clinically heterogeneous diseases characterized by progressive degeneration of the retina and loss of visual function. Oxidative stress and inflammation play key roles in the pathophysiology of IRDs. Gene therapy has shown some success in treating IRDs, but other therapeutic strategies targeting oxidative stress and inflammation are also being investigated.
Editorial Material
Anatomy & Morphology
Luis Perez de Sevilla, Laura Fernandez-Sanchez
FRONTIERS IN NEUROANATOMY
(2023)
Article
Neurosciences
Xavier Sanchez-Saez, Isabel Ortuno-Lizaran, Carla Sanchez-Castillo, Pedro Lax, Nicolas Cuenca
Summary: This study aimed to determine if starburst amacrine cells, involved in motion direction selectivity, are degenerated in Parkinson's disease (PD) and if the dopaminergic system is related to this degeneration. The results showed a reduction in starburst amacrine cell density and a decrease in dopaminergic synaptic contacts in PD retinas. In conclusion, the degeneration of starburst amacrine cells in PD is related to dopaminergic degeneration, and dopaminergic amacrine cells play a role in modulating the function of starburst amacrine cells. Assessment of motion perception circuitries using visual tests could be a valuable tool for PD diagnosis.
TRANSLATIONAL NEURODEGENERATION
(2023)
Article
Ophthalmology
Henar Albertos-Arranz, Natalia Martinez-Gil, Xavier Sanchez-Saez, Agustina Noailles, Clara Monferrer Adsuara, Lidia Remoli Sargues, Juan J. Perez-Santonja, Pedro Lax, Ramon Calvo Andres, Nicolas Cuenca
Summary: This study aimed to determine whether COVID-19 affected retinal cells and establish correlations with clinical parameters. Immunostaining and confocal microscopy analysis revealed that Muller cells in COVID-19 patients showed stronger expression of ACE2 and CRALBP, and the retinas exhibited glial activation and neuronal alterations, mainly related to inflammation, hypoxic conditions, and age.
Article
Ophthalmology
Agustina Noailles, Oksana Kutsyr, Aloma Mayordomo-Febrer, Pedro Lax, Maria Lopez-Murcia, Silvia M. Sanz-Gonzalez, Maria Dolores Pinazo-Duran, Nicolas Cuenca
Summary: By studying a rat model of chronic glaucoma, it was found that intraocular injections of sodium hyaluronate result in increased intraocular pressure and changes in retinal morphology, similar to the characteristics of human open-angle glaucoma.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)