Article
Biochemistry & Molecular Biology
Lorena Olivares-Gonzalez, Sheyla Velasco, Isabel Campillo, David Salom, Emilio Gonzalez-Garcia, Jose Miguel Soriano del Castillo, Regina Rodrigo
Summary: In this study, the nutraceutical mixture with antioxidant properties (NUT) was found to delay retinal degeneration in rd10 mice, a model of RP. NUT treatment improved redox status, reduced inflammation, and preserved retinal functionality and morphology in early stages of RP. This formulation could potentially serve as a neuroprotective approach for patients with RP in the future.
Review
Pharmacology & Pharmacy
Joseph Thomas Ortega, Beata Jastrzebska
Summary: The retina is a multilayer neuronal tissue at the back of the eye that transduces light into neural impulses. Many eye diseases lead to retina degeneration, with RP being a common hereditary disorder related to mutations in rhodopsin. In RP, sustained inflammation exacerbates due to abnormal genetic background, leading to photoreceptor decline.
Article
Genetics & Heredity
Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon Woo
Summary: This study investigated the clinical features, natural course, and genetic characteristics of Koreans with rhodopsin-associated retinitis pigmentosa (RHO-associated RP). The study found that the generalized RP group had a higher rate of visual field impairment progression to late-stage RP compared to the sector RP group. Best-corrected visual acuity deterioration was observed only in the generalized RP group. The study also identified several RHO gene mutations, including some that presented with both generalized and sector RP phenotypes.
FRONTIERS IN GENETICS
(2023)
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
Neurosciences
Nundehui Diaz-Lezama, Jacqueline Kajtna, Jiou Wu, Monika Ayten, Susanne F. Koch
Summary: This study investigates the relationship between photoreceptor cell death and changes in glial cells in retinal degenerative diseases such as retinitis pigmentosa (RP). By conducting experiments on a Pde6b-deficient RP gene therapy mouse model, it is found that glial cells exhibit reversible changes at late disease stages after treatment. These findings suggest that therapeutic approaches can restore the homeostasis between photoreceptors and glial cells.
Review
Multidisciplinary Sciences
Ammanie Abdul-Fatah, Leila Esmaeilisaraji, Crisel Mae Juan, Martin Holcik
Summary: This paper provides support for the creation of a mitochondrial disease patient registry in Canada through a systematic scoping review. It also fills a knowledge gap by providing a narrative synthesis of published literature on these registries.
Article
Chemistry, Medicinal
Adrian M. Alambiaga-Caravaca, Antolin Canto, Vicent Rodilla, Maria Miranda, Alicia Lopez-Castellano
Summary: The study found that topical administration of CD-PG solution significantly reduced cell death and inflammation, delaying vision loss and decreasing gliosis in an animal model of RP.
Article
Chemistry, Analytical
Adrian M. Alambiaga-Caravaca, Iris M. Domenech-Monsell, Maria Sebastian-Morell, Maria Miranda, Cristina Balaguer-Fernandez, Aracely Calatayud-Pascual, Vicent Rodilla, Alicia Lopez-Castellano
Summary: The study aimed to analyze the ocular irritation caused by progesterone, validate an HPLC method for determining progesterone in ex vivo studies, and evaluate progesterone permeation through the cornea and sclera.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2021)
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)
Article
Biochemistry & Molecular Biology
Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P. M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schaeferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Summary: This study investigated the phenotypic and genotypic features of retinitis pigmentosa associated with PDE6B gene variants, with most mutations being splicing defects and missense mutations. 43% of the PDE6B variants found in patients were novel, contributing to the mutation spectrum of PDE6B.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Medicine, General & Internal
Abinaya Thenappan, Arjun Nanda, Chang Sup Lee, Sun Young Lee
Summary: Timely recognition and differentiation of pseudo-RP cases is crucial due to the treatable nature of many such conditions. This review provides examples of pseudo-RP cases and an in-depth overview of RP masquerades, emphasizing the importance of accurate diagnoses for effective interventions. It also discusses the role of genetic testing in RP patients and highlights the necessity of a precise clinical assessment for diagnosis and management.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Dongju Won, Joo-Yeon Hwang, Yeeun Shim, Suk Ho Byeon, Junwon Lee, Christopher Seungkyu Lee, Min Kim, Hyun Taek Lim, Jong Rak Choi, Seung-Tae Lee, Jinu Han
Summary: MEIs are often missed due to exceeding read lengths of short-read sequencing technologies, but a grep search program was developed in this study to efficiently detect the RP1 Alu insertion. The Alu insertion in RP1 exon 4 was found to be a common founder mutation in Korean population.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Pankhuri Gupta, Kenji Nakamichi, Alyssa C. C. Bonnell, Ryan Yanagihara, Nick Radulovich, Fuki M. M. Hisama, Jennifer R. R. Chao, Debarshi Mustafi
Summary: Phasing genetic variants is crucial for identifying potential disease-causing variants. Reclassification of variants of uncertain significance (VUS) in autosomal recessive inherited retinal diseases (IRDs) can lead to a genetic diagnosis when combined with familial co-segregation analysis. This study reports four cases where a VUS was found to be trans to a known pathogenic variant through familial co-segregation, resulting in the reclassification of the VUS to likely pathogenic and a genetic diagnosis. Additionally, targeted long-read sequencing was utilized to infer variant phasing in a simplex patient without access to family members for co-segregation analysis. This emerging method provides a solution for cases where genetic testing of family members is unfeasible, allowing for a complete genetic diagnosis.
NPJ GENOMIC MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Daniel J. Jackson, Adam M. Dubis, Mariya Moosajee
Summary: This study reports the natural history of CNGB1-related RP and finds that it is a slowly progressive disease with patients maintaining visual acuity. Further research is needed to determine the clinical endpoints to be used in clinical trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Carla Enrica Gallenga, Maria Lonardi, Sofia Pacetti, Sara Silvia Violanti, Paolo Tassinari, Francesco Di Virgilio, Mauro Tognon, Paolo Perri
Summary: Retinitis pigmentosa is a genetic retinopathy, but non-genetic factors such as inflammation, autophagy, and oxidative stress play a crucial role in its pathogenesis and progression. Oxidative stress, caused by constant exposure to light/oxidative stress, results in accumulation of ROS in the retina, leading to microglial activation and photoreceptor degeneration. Various genetic mutations and alterations in cellular response contribute to the vicious cycle of neuroinflammation and degeneration in RP, suggesting microglia as a key target for oxidative stress therapy.
Article
Biochemistry & Molecular Biology
Ayse Sahaboglu, Maria Miranda, Denis Canjuga, Meltem Avci-Adali, Natalia Savytska, Enver Secer, Jessica Abigail Feria-Pliego, Gulru Kayik, Serdar Durdagi
CELLULAR AND MOLECULAR LIFE SCIENCES
(2020)
Article
Pharmacology & Pharmacy
Maria Sebastian-Morello, Adrian M. Alambiaga-Caravaca, Maria Aracely Calatayud-Pascual, Vicent Rodilla, Cristina Balaguer-Fernandez, Maria Miranda, Alicia Lopez-Castellano
Article
Chemistry, Analytical
Adrian M. Alambiaga-Caravaca, Iris M. Domenech-Monsell, Maria Sebastian-Morell, Maria Miranda, Cristina Balaguer-Fernandez, Aracely Calatayud-Pascual, Vicent Rodilla, Alicia Lopez-Castellano
Summary: The study aimed to analyze the ocular irritation caused by progesterone, validate an HPLC method for determining progesterone in ex vivo studies, and evaluate progesterone permeation through the cornea and sclera.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2021)
Editorial Material
Cell Biology
Michael J. Munson, Benan J. Mathai, Matthew Yoke Wui Ng, Laura Trachsel-Moncho, Laura R. de la Ballina, Anne Simonsen
Summary: Maintenance of cellular homeostasis requires the removal of mitochondria through programmed or stress-induced mitophagy. While stress-induced mitophagy is regulated by PRKN, the mechanisms regulating basal mitophagy levels are still poorly understood. Recent research has identified two kinases, GAK and PRKCD, as positive regulators of PRKN-independent mitophagy. PRKCD is found to be localized to mitochondria and regulates the recruitment of ULK1-ATG13 during mitophagy induction. On the other hand, GAK activity modifies mitochondrial and lysosomal morphology, compromising efficient transport of mitochondria for degradation. Impairment of either kinase in vivo blocks basal mitophagy, underscoring the biological significance of these findings.
Article
Multidisciplinary Sciences
Michael J. Munson, Benan J. Mathai, Matthew Yoke Wui Ng, Laura Trachsel-Moncho, Laura R. de la Ballina, Sebastian W. Schultz, Yahyah Aman, Alf H. Lystad, Sakshi Singh, Sachin Singh, Jorgen Wesche, Evandro F. Fang, Anne Simonsen
Summary: The study identified GAK and PRKCD as positive regulators of PRKN-independent mitophagy by screening a lipid-binding protein siRNA library. The kinase activities of GAK and PRKCD are required for efficient mitophagy in vitro, and PRKCD is involved in recruiting ULK1/ATG13 to early autophagic structures on mitochondria. In vivo relevance of both kinases in the regulation of basal mitophagy was demonstrated in C. elegans and zebrafish models.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Rosa Lopez-Pedrajas, Inmaculada Almansa, Maria V. Sanchez-Villarejo, Borja Muriach, Jorge M. Barcia, Francisco J. Romero, Maria Muriach
Summary: The study found that chronic cocaine administration impairs memory acquisition, increases GluN2B expression in the hippocampus, decreases NF-kappa B activity, and reduces expression of the active form of CREB, highlighting the roles of these transcription factors in cocaine-induced memory impairment.
SCIENTIFIC REPORTS
(2021)
Article
Pharmacology & Pharmacy
Antolin Canto, Javier Martinez-Gonzalez, Maria Miranda, Teresa Olivar, Inma Almansa, Vicente Hernandez-Rabaza
Summary: Retinitis pigmentosa (RP) is a type of hereditary retinal disease, and inflammation is an important factor. This study found that sulforaphane (SFN) has anti-inflammatory properties and regulates retinal degeneration and inflammation in an RP mouse model. SFN may have neuroprotective effects in clinical settings.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Chemistry, Medicinal
Adrian M. Alambiaga-Caravaca, Antolin Canto, Vicent Rodilla, Maria Miranda, Alicia Lopez-Castellano
Summary: The study found that topical administration of CD-PG solution significantly reduced cell death and inflammation, delaying vision loss and decreasing gliosis in an animal model of RP.
Article
Multidisciplinary Sciences
Matthew Yoke Wui Ng, Chara Charsou, Ana Lapao, Sakshi Singh, Laura Trachsel-Moncho, Sebastian W. Schultz, Sigve Nakken, Michael J. Munson, Anne Simonsen
Summary: The cholesterol transport protein GRAMD1C suppresses autophagy initiation and plays a role in mitochondrial cholesterol homeostasis and respiration. GRAMD1C associates with mitochondria and functions as a negative regulator of autophagy initiation.
NATURE COMMUNICATIONS
(2022)
Article
Food Science & Technology
Eva Mateo, Rik Paulus Bernardus Tonino, Antolin Canto, Antonio Monroy Noyola, Maria Miranda, Jose Miguel Soria, Maria Angeles Garcia Esparza
Summary: Ochratoxin A (OTA) is a mycotoxin found in various crops and human foodstuffs. Previous studies have shown that OTA may have adverse effects on metabolism, physiology, immunity, and carcinogenesis. This in vivo study demonstrates that chronic exposure to OTA negatively affects cell viability in the dentate gyrus of the hippocampus in adult mice. The results suggest that OTA may impair brain cells and contribute to neurodegenerative disorders.
Article
Biochemistry & Molecular Biology
Antolin Canto, Javier Martinez-Gonzalez, Inmaculada Almansa, Rosa Lopez-Pedrajas, Vicente Hernandez-Rabaza, Teresa Olivar, Maria Miranda
Summary: The study found that in rds mice, the time sequence of oxidative stress and inflammation changes as follows: at PN11, there is a small increase in photoreceptor death and microglial cells; at PN17, damage to macromolecules is observed; at PN21, the maximum photoreceptor death rate is detected, along with an increase in GSH-GSSG and GFAP; at PN21, microglial cells are activated; and at PN28, there is a decrease in GSH synthesis enzymes. These findings contribute to understanding the pathophysiology of RP and suggest that oxidative stress and inflammation may be therapeutic targets in this disease.
Meeting Abstract
Ophthalmology
Maria Miranda, Antolin Canto, Javier Martinez, Vicente Hernandez-Rabaza, Teresa Olivar, Inmaculada Almansa
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Maruf Hasan, Henry Reyer, Michael Oster, Nares Trakooljul, Siriluck Ponsuksilli, Elizabeth Magowan, Dagmar -Christiane Fischer, Klaus Wimmers
Summary: UVB exposure can increase the supply of vitamin D in pig husbandry and does not affect the growth performance of the pigs. After exposure, there are changes in gene expression in the liver, with the pathways for vitamin D synthesis being preferentially initiated.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2024)
Article
Biochemistry & Molecular Biology
Zhen Wang, Shu-ying Yi, Yuan-ying Zhang, Yu-di Wang, Han-lin Chen, Yi-jie Guo, Xin-ming Wei, Du-xiao Yang
Summary: Vitamin D can reverse S1P-induced cell death and alleviate EAE symptoms by regulating S1P levels and related signaling pathways.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2024)
Correction
Biochemistry & Molecular Biology
Haixiao Chen, Xing Ji, Xinhua Hu, Lihua Chen, Haiyan Lv, Chengyun Xu, Dun Hong, Ximei Wu
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2024)