Article
Cell Biology
Imen Habibi, Yosra Falfoul, Hoai Viet Tran, Khaled El Matri, Ahmed Chebil, Leila El Matri, Daniel F. Schorderet
Summary: This study identified a new form of digenetic combination in families with autosomal dominant retinal dystrophies, showing that in consanguineous families, autosomal recessive can be transmitted as pseudodominant inheritance in RD patients. The findings further expand our knowledge of pathogenic variants in RD genes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Nutrition & Dietetics
Lorena Olivares-Gonzalez, David Salom, Emilio Gonzalez-Garcia, David Hervas, Natalia Mejia-Chiqui, Mar Melero, Sheyla Velasco, Bianca Tabita Muresan, Isabel Campillo, Nieves Vila-Clerigues, Eduardo Lopez-Briz, Juan Francisco Merino-Torres, Jose Maria Millan, Jose Miguel Soriano Del Castillo, Regina Rodrigo
Summary: This study evaluated the effect of a 2-year nutritional intervention with antioxidant nutraceuticals on retinitis pigmentosa (RP) patients. The findings showed that the intervention improved retinal responses and reduced ocular oxidative damage, suggesting that long-term nutraceutical supplementation can slow down visual impairment and ameliorate ocular oxidative stress in RP.
FRONTIERS IN NUTRITION
(2022)
Article
Cell Biology
Lucie Crouzier, Camille Diez, Elodie M. Richard, Nicolas Cubedo, Clement Barbereau, Mireille Rossel, Thomas Delaunay, Tangui Maurice, Benjamin Delprat
Summary: Retinitis pigmentosa (RP) is a common inherited retinal degeneration disease with no current treatment available. The zebrafish pde6a(Q70X) mutant serves as an ideal model for studying the progression of RP and potential treatments.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Neurosciences
Ilaria Piano, Francesca Corsi, Beatrice Polini, Claudia Gargini
Summary: Treatment with naringenin and quercetin can alleviate retinal degeneration by preserving photoreceptor functionality and increasing antioxidant and anti-apoptotic pathways.
FRONTIERS IN NEUROSCIENCE
(2022)
Review
Cell Biology
Nicola Mosca, Sara Petrillo, Sara Bortolani, Mauro Monforte, Enzo Ricci, Fiorella Piemonte, Giorgio Tasca
Summary: Oxidative stress is a prominent factor in the pathophysiology of various muscle disorders, but specific mechanisms and targeted antioxidant therapies still require further research and clinical trials.
Article
Ophthalmology
Jose-Alain Sahel, Kate Grieve, Chloe Pagot, Colas Authie, Saddek Mohand-Said, Michel Paques, Isabelle Audo, Karine Becker, Anne-Elisabeth Chaumet-Riffaud, Line Azoulay, Emmanuel Gutman, Thierry Leveillard, Christina Zeitz, Serge Picaud, Deniz Dalkara, Katia Marazova
Summary: The study found a weak correlation between visual acuity and retinal structural variables, while functional impairment was associated with reduction in anatomical markers of photoreceptor structure and increased width of autofluorescent ring. Flood-illumination adaptive optics imaging revealed various phenotypes, and mobility assessment under different lighting conditions showed correlations with visual field, visual acuity, contrast sensitivity, and dark adaptation.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Paul. S. Micevych, Jessica Wong, Hao Zhou, Ruikan. K. Wang, Travis. C. Porco, Joseph Carroll, Austin Roorda, Jacque. L. Duncan
Summary: This study compared cone structure and function between patients with RPGR and USH2A-related retinal degeneration. It found that outer retinal structure and choriocapillaris perfusion were more abnormal in patients with RPGR-related retinal degeneration compared to those with USH2A-related retinal degeneration. However, there were no significant differences in below-normal regional sensitivity between rod-cone degeneration associated with variants in these 2 genes expressed at the photoreceptor-connecting cilium.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Multidisciplinary Sciences
Divya Ail, Diane Nava, In Pyo Hwang, Elena Brazhnikova, Celine Nouvel-Jaillard, Alexandre Dentel, Corentin Joffrois, Lionel Rousseau, Julie Degardin, Stephane Bertin, Jose-Alain Sahel, Olivier Goureau, Serge Picaud, Deniz Dalkara
Summary: To test novel therapies, suitable nonhuman primate models are needed, but there is a lack of relevant macaque models of retinal degeneration. Researchers have generated three distinct inducible cynomolgus macaque models of retinal degeneration to address this issue. Among the three models, the CRISPR-Cas9-based approach is the most advantageous for recapitulating disease-specific features and ease of implementation. The acute model, on the other hand, degenerates the fastest and is the most relevant for testing end-stage vision restoration therapies.
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)
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.
Review
Biochemistry & Molecular Biology
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T. J. Hollingsworth
Summary: Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases with various inheritance patterns caused by defects in retinal function, development, or both. Mutated genes associated with IRDs produce altered protein products that disrupt pathways critical to vision. This manuscript provides a comprehensive review of the molecular mechanisms underlying IRD pathogenesis by examining the genes, protein products, and pathways affected by genetic mutation.
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
Medicine, General & Internal
Kei Mizobuchi, Takaaki Hayashi, Noriko Oishi, Daiki Kubota, Shuhei Kameya, Koichiro Higasa, Takuma Futami, Hiroyuki Kondo, Katsuhiro Hosono, Kentaro Kurata, Yoshihiro Hotta, Kazutoshi Yoshitake, Takeshi Iwata, Tomokazu Matsuura, Tadashi Nakano
Summary: The study on RP1-associated retinal dystrophies in the Japanese population revealed a high prevalence of RP1 variants, with Alu element insertion being the most common variant. Clinical findings showed that AR-RP patients had earlier and faster onset and progression of the disease compared to AD-RP or AR-COD/CORD patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta
Summary: In this study, 17 distinct genomic variants in IRD disease genes were identified in 17 consanguineous pedigrees of Iranian descent, confirming the heterogeneous nature and recessive inheritance pattern of IRDs. The findings also highlight endogamy within the Iranian population as a major contributing factor to the appearance of IRDs.
SCIENTIFIC REPORTS
(2021)
Review
Cell Biology
Marilia Ines Movio, Theo Henrique de Lima-Vasconcellos, Gabrieli Bovi dos Santos, Marcela Bermudez Echeverry, Elisabetta Colombo, Leonardo S. Mattos, Rodrigo Ribeiro Resende, Alexandre Hiroaki Kihara
Summary: Human-induced pluripotent stem cells (hiPSCs) have revolutionized the study of neurodegenerative diseases, including retinal dystrophies. In vitro modeling of retinal diseases using hiPSCs has offered new insights and possibilities for early diagnosis of conditions like Alzheimer's disease (AD) and Parkinson's disease (PD). This review highlights recent progress in the field and emphasizes the potential of retinal organoids obtained from potential patients to evaluate disease-related changes long before symptoms appear.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Pei-Yang Gao, Ya-Nan Ou, Yi-Ming Huang, Zhi-Bo Wang, Yan Fu, Ya-Hui Ma, Qiong-Yao Li, Li-Yun Ma, Rui-Ping Cui, Yin-Chu Mi, Lan Tan, Jin-Tai Yu
Summary: Liver function may play a role in the progression of Alzheimer's disease. The study found that as AD progressed, certain liver function markers increased while others decreased. The relationship between liver function and CSF AD biomarkers indicates a potential mediation effect on cognition.
JOURNAL OF NEUROCHEMISTRY
(2024)