Article
Biochemistry & Molecular Biology
Yuqin Liang, Feng Tan, Xihao Sun, Zekai Cui, Jianing Gu, Shengru Mao, Hon Fai Chan, Shibo Tang, Jiansu Chen
Summary: This study established an iPSCs model of a PRPF6-related adRP patient and generated a disease model of RPE cells, revealing the effects of PRPF6 mutation on the morphology, gene expression, and function of RPE cells. This research is of great significance for understanding PRPF6-related RPE cells and future cell therapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Rocio Garcia-Arroyo, Aleix Gavalda-Navarro, Francesc Villarroya, Gemma Marfany, Serena Mirra
Summary: CERKL, a causative gene for Retinitis Pigmentosa, is involved in regulating autophagy, stress granules, and mitochondrial metabolism. Depletion of CERKL increases vulnerability of RPE mitochondria, leading to altered mitochondrial shape and respiratory dysfunction under oxidative stress conditions. Overexpression of CERKL protects the mitochondrial network against oxidative stress, suggesting its resilience in regulating mitochondrial function in RPE cells.
Review
Immunology
Carson C. Petrash, Alan G. Palestine, M. Valeria Canto-Soler
Summary: The potential of replacing dysfunctional retinal pigmented epithelium (RPE) with stem cell grafts to improve vision in patients with retinal disorders is being explored by numerous research groups. However, factors such as immune responses, unique immunologic environments, and variability in assessment techniques and drug regimens complicate comparisons of findings and determination of successful outcomes in RPE transplant trials. Further research is needed to address these complicating factors and improve the design of future transplants and investigations.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Ophthalmology
Miho Tagawa, Hanako Ohashi Ikeda, Yumi Inoue, Sachiko Iwai, Yuto Iida, Masayuki Hata, Isao Asaka, Akitaka Tsujikawa
Summary: Retinitis pigmentosa (RP) is a degenerative disease with unknown progression mechanism. MERTK, a causal gene of RP, plays a key role in the phagocytosis of photoreceptor outer segments. Using induced pluripotent stem cells (iPSC) from RP patients and healthy individuals, researchers found that diseased cells had significantly lower internalization of outer segments compared to healthy cells, suggesting the potential for elucidating disease mechanisms and treatment screening.
EXPERIMENTAL EYE RESEARCH
(2021)
Article
Ophthalmology
Eun Kyoung Lee, Sang-Yoon Lee, Dae Joong Ma, Chang Ki Yoon, Un Chul Park, Hyeong Gon Yu
Summary: This study investigated the clinical characteristics and natural course of patients with RP sine pigmento using multimodal imaging. The results showed that diagnosing this condition based solely on ophthalmoscopic findings is more difficult. Multimodal imaging can provide additional information to facilitate the diagnosis and follow-up of patients.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2022)
Article
Cell & Tissue Engineering
Harshini Surendran, Swapna Nandakumar, Vijay Bhaskar K. Reddy, Jonathan Stoddard, Varsha K. Mohan, Pramod K. Upadhyay, Trevor J. McGill, Rajarshi Pal
Summary: This study demonstrated the in vivo functionality of RPE and PRP cells derived from a clinical-grade hiPSC line, showing promise for potential regenerative cell therapies in patients. The extensively characterized RPE and PRP cells expressed specific markers and demonstrated functional activity after transplantation, indicating strong efficacy and safety data for future clinical trials.
STEM CELL RESEARCH & THERAPY
(2021)
Article
Cell & Tissue Engineering
Ingrid W. Caras, Lila R. Collins, Abla A. Creasey
Summary: This article chronicles the California Institute for Regenerative Medicine's journey in the ophthalmology field, highlighting their support for stem cell approaches in treating eye diseases. The discussion includes key challenges addressed along the way and questions that still remain unanswered.
STEM CELLS TRANSLATIONAL MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Summary: Variants in PRPH2 were analyzed in this study using online prediction tools and large datasets. Ten pathogenic or likely pathogenic variants were identified in 14 families, with p.G305Afs*19 being the most frequent variant. The study proposed novel insights into the genotype-phenotype correlation of PRPH2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Anatomy & Morphology
Debora Napoli, Enrica Strettoi
Summary: Retinal pigment epithelium (RPE) is a specialized cell layer dedicated to supporting and protecting the retina. In retinitis pigmentosa (RP), degeneration of the photoreceptors can lead to abnormal organization and compromised barrier function of RPE cells. The biological mechanisms behind these changes are largely unknown. A study using a mouse model of RP suggests that inflammatory responses may be involved in remodeling of RPE, and further investigation is needed.
JOURNAL OF ANATOMY
(2023)
Article
Multidisciplinary Sciences
Ruchi Sharma, Aman George, Malika Nimmagadda, Davide Ortolan, Barbosa-Sabanero Karla, Zoya Qureshy, Devika Bose, Roba Dejene, Genqing Liang, Qin Wan, Justin Chang, Balendu Shekhar Jha, Omar Memon, Kiyoharu Joshua Miyagishima, Aaron Rising, Madhu Lal, Eric Hanson, Rebecca King, Mercedes Maria Campos, Marc Ferrer, Juan Amaral, David McGaughey, Kapil Bharti
Summary: This study presents an in vitro iPSC-RPE model for AMD that replicates drusen and RPE atrophy, and identifies two drugs that reduce deposits and restore RPE phenotype. The findings provide molecular insights into the role of CFH(H/H) risk-allele in AMD and discover two candidate drugs for AMD treatment.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Mirjana Bjelos, Mladen Busic, Ana Curic, Borna Saric, Damir Bosnar, Leon Markovic, Biljana Kuzmanovic Elabjer, Benedict Rak
Summary: This case report presents a novel point mutation RPE65 c.353G>A, p.(Arg118Lys) associated with severe clinical presentation and complete macular atrophy in retinitis pigmentosa. The study suggests that this mutation should be reclassified as likely pathogenic due to its contribution to the pathological phenotype.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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
Ophthalmology
Aarti Bhardwaj, Anshu Yadav, Manoj Yadav, Mukesh Tanwar
Summary: Retinitis pigmentosa (RP) is a common form of inherited retinal dystrophy characterized by progressive vision loss. RP has genetic heterogeneity, making it difficult to determine the genetic cause in many cases. Understanding the genetic heterogeneity of RP is crucial for prognosis and proper management.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2022)
Correction
Ophthalmology
Margarita G. Todorova, Hendrik P. N. Scholl, Maria della Volpe Waizel
Summary: The online published version contains an error in presenting the name of the author Maria della Volpe Waizel.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2021)
Article
Multidisciplinary Sciences
Andrea Aparicio, Erika T. Camacho, Nancy J. Philp, Stephen A. Wirkus
Summary: We present a mathematical model of key glucose metabolic pathways in two cells of the human retina: the rods and the retinal pigmented epithelium (RPE). Computational simulations reveal that modification of GLUT1 expression levels in both cells differentially impacts their metabolism. Under glucose scarcity, the RPE alters its energy producing pathways, affecting the photoreceptors' outer segment renewal. Limited glucose in the rods leads to preserved aerobic glycolysis, maintaining lactate contribution to the RPE.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, Research & Experimental
Yueqin Zhou, Sharon Carmona, A. K. M. G. Muhammad, Shaughn Bell, Jesse Landeros, Michael Vazquez, Ritchie Ho, Antonietta Franco, Bin Lu, Gerald W. Dorn, Shaomei Wang, Cathleen M. Lutz, Robert H. Baloh
JOURNAL OF CLINICAL INVESTIGATION
(2019)