Review
Genetics & Heredity
Alice P. Vasconcelos, Ana Nogueira, Pedro Matos, Joel Pinto, Maria Joao Pinho, Susana Fernandes, Sofia Doria, Carla Pinto Moura
Summary: Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is a rare disorder caused by pathogenic variants in the AP1B1 gene. We report a new patient with KIDAR and compare the clinical findings with previously published cases. The phenotype of KIDAR includes enteropathy, feeding difficulties, failure to thrive, dry skin, deafness, and brittle hair.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Keri Mc Lean, Stefano Bignotti, Michele Callea, Francisco Cammarata-Scalisi, Bernhard Steger, David Armstrong, Maeve Lagan, Janet Sinton, Francesco Semeraro, Stephen B. Kaye, Vito Romano, Colin E. Willoughby
Summary: This study reports the ocular manifestations, clinical course, and therapeutic management of patients with keratitis-ichthyosis-deafness syndrome. Four patients were recruited for examination and mutational analysis. The main ophthalmic features included keratopathy, ocular surface disease, and corneal stromal scarring. Oral therapy with ketoconazole was found to stabilize the corneal and skin disease.
OPHTHALMIC GENETICS
(2023)
Article
Genetics & Heredity
Fatemeh Faghihi, Hossein Jafari Khamirani, Sina Zoghi, Neda Kamal, Babak Shirazi Yeganeh, Mehdi Dianatpour, Seyed Mohammad Bagher Tabei, Seyed Alireza Dastgheib
Summary: Inborn errors in copper metabolism can lead to various abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 gene cause KIDAR syndrome, characterized by ichthyosis, keratitis, erythroderma, progressive hearing loss, developmental delay, and failure to thrive. This article describes a case of KIDAR syndrome in a six-and-a-half-year-old boy with a novel pathogenic variant in the AP1B1 gene and reviews the clinical features associated with this syndrome.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
T. Kalezic, I Vukovic, M. Stojkovic, S. Stanojlovic, J. Karanovic, G. Brajuskovic, D. Savic-Pavicevic
Summary: This article reports two Serbian patients with KID syndrome. Despite receiving a combination of topical corticosteroid and artificial tears therapy, the disease continued to progress and the therapeutic effects on ophthalmological symptoms with the local treatment modalities used so far have been disappointing.
BALKAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Dermatology
Vincenzo Bettoli, Riccardo Forconi, Ilaria Pezzini, Ruby Martinello, Valeria Scuderi, Piera Zedde, Natale Schettini, Lucrezia Pacetti, Monica Corazza
Summary: The association between KID syndrome and HS is rare, with surgical intervention achieving excellent results in the difficult management of this condition. Despite technical challenges, surgery is strongly recommended for these patients due to its effectiveness.
SKIN APPENDAGE DISORDERS
(2021)
Review
Dermatology
Manahel Mahmood Alsabbagh
Summary: This comprehensive review provides an insight into the clinical presentations of the rare Keratitis-ichthyosis-deafness syndrome, with a specific focus on cutaneous manifestations and available treatment options.
PEDIATRIC DERMATOLOGY
(2023)
Review
Pharmacology & Pharmacy
Claudia Garcia-Rodriguez, Ivan D. Bravo-Tobar, Yorley Duarte, Luis C. Barrio, Juan C. Saez
Summary: Overcoming refractory epilepsy's resistance to medication, reducing side effects, and preventing sudden unexpected death are crucial therapeutic goals. This review emphasizes the involvement of non-selective membrane channels and receptors in epilepsy, highlighting their activation and contribution to seizure intensity.
PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Cell Biology
Juan Guiza, Anibal Garcia, Javiera Arriagada, Camila Gutierrez, Jorge Gonzalez, Valeria Marquez-Miranda, Melissa Alegria-Arcos, Yorley Duarte, Maximiliano Rojas, Fernando Gonzalez-Nilo, Juan C. Saez, Jose L. Vega
Summary: The study identified innexin protein homologs in unicellular organisms, which may serve as protein subunits of novel large-pore channels in single-celled organisms. These proteins were found to have key structural features and potential functional roles similar to those in parasitic diseases like Chagas.
JOURNAL OF CELLULAR PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Arlek Gonzalez-Jamett, Walter Vasquez, Gabriela Cifuentes-Riveros, Rafaela Martinez-Pando, Juan C. Saez, Ana M. Cardenas
Summary: Muscular dystrophies are a heterogeneous group of neuromuscular disorders characterized by muscle pain, weakness, and atrophy. These diseases are caused by gene mutations that affect the structure and function of skeletal muscles, leading to inflammation, oxidative stress, and muscle degeneration. Dysregulation of connexin hemichannels plays a crucial role in these processes.
Review
Biochemistry & Molecular Biology
Alvaro R. Ruiz-Fernandez, Leonardo Campos, Sebastian E. Gutierrez-Maldonado, Gonzalo Nunez, Felipe Villanelo, Tomas Perez-Acle
Summary: Nanosecond Pulsed Electric Field (nsPEF) is an electrostimulation technique that delivers high electric field pulses in the nanosecond range to biological tissues or cells. This technique has multiple effects, including increasing cytoplasmic Ca2+ concentration, triggering signaling cascades, and has a wide range of applications such as sterilization, seed germination, wound healing, immune response enhancement, cell proliferation, and cancer treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Angelina Palacios-Munoz, Danielle de Paula Moreira, Valeria Silva, Isaac E. Garcia, Francisco Aboitiz, Mehdi Zarrei, Gabriele Campos, Olivia Rennie, Jennifer L. Howe, Evdokia Anagnostou, Patricia Ambrozewic, Stephen W. Scherer, Maria Rita Passos-Bueno, John Ewer
Summary: This study provides further evidence that the TRPC6 gene is a risk factor for Autism Spectrum Disorder (ASD). Using fruit flies as a model, the researchers found that null mutations in the TRPC6 gene cause behavioral defects similar to those seen in ASD patients. Interestingly, the TRPC6 agonist hyperforin was able to attenuate many of these defects.
MOLECULAR PSYCHIATRY
(2022)
Review
Neurosciences
Sofia Waissbluth, Juan Cristobal Maass, Helmuth A. Sanchez, Agustin D. Martinez
Summary: This article discusses the effects of cisplatin on the inner ear and its potential mechanisms for causing hearing loss, focusing on the role of transporters and gap junctions expressed by supporting cells in this process.
FRONTIERS IN NEUROSCIENCE
(2022)
Editorial Material
Medicine, General & Internal
A. R. Ruiz-Fernandez, M. Rosemblatt, T. Perez-Acle
Summary: This article discusses a new technology called nanosecond Pulsed Electric Field (nsPEF), which may be used to produce inactivated SARS-CoV-2 viruses for the production of novel vaccines to address the ongoing COVID-19 pandemic.
ANNALS OF MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Lucas Bayones, Maria Jose Guerra-Fernandez, Fernando Hinostroza, Ximena Baez-Matus, Jacqueline Vasquez-Navarrete, Luciana Gallo, Sergio Parra, Agustin D. Martinez, Arlek Gonzalez-Jamett, Fernando D. Marengo, Ana M. Cardenas
Summary: Gain-of-function mutations of dynamin-2 result in centronuclear myopathy by impairing exocytosis, disrupting actin filament formation and impacting the plasmalemma expression of functional proteins in skeletal muscle cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Claudio Cordova, Roberto Munoz, Rodrigo Olivares, Jean-Gabriel Minonzio, Carlo Lozano, Paulina Gonzalez, Ivanny Marchant, Wilfredo Gonzalez-Arriagada, Pablo Olivero
Summary: Using an explainable Machine Learning (ML) model, it is possible to determine criteria to improve the value of IHC analysis for HER2 classification in breast cancer. The model showed improved performance in discriminating amplified IHC from normal expression when the training output was the IHC + FISH final diagnosis (IHC vs. IHC + FISH: area under the curve, 0.94 vs. 0.81).
Article
Cell Biology
Carolina Flores-Munoz, Francisca Garcia-Rojas, Miguel A. Perez, Odra Santander, Elena Mery, Stefany Ordenes, Javiera Illanes-Gonzalez, Daniela Lopez-Espindola, Arlek M. Gonzalez-Jamett, Marco Fuenzalida, Agustin D. Martinez, Alvaro O. Ardiles
Summary: Enhanced activity and overexpression of Pannexin 1 (Panx1) channels contribute to neuronal pathologies. The absence of Panx1 in the adult brain promotes structural and functional modifications in hippocampal synapses, preserving spontaneous activity. These modifications are related to actin-cytoskeleton dynamics and Rho GTPases.
Article
Cell Biology
Ana C. Abbott, Isaac E. Garcia, Felipe Villanelo, Carolina Flores-Munoz, Ricardo Ceriani, Jaime Maripillan, Joel Novoa-Molina, Cindel Figueroa-Cares, Tomas Perez-Acle, Juan C. Saez, Helmuth A. Sanchez, Agustin D. Martinez
Summary: It has been demonstrated that a genetic mutation in the gap junction protein Connexin 26 (Cx26) can lead to hyperactivity and damage of hearing cells in the cochlea, resulting in syndromic deafness. The specific mutation Cx26S17F, when co-expressed with wild-type connexins like Cx30, forms hyperactive hemichannels in supporting cells of the organ of Corti. These hyperactive hemichannels are insensitive to blockers and ions, leading to abnormal calcium influx and cellular damage.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Luis A. Cea, Walter Vasquez, Romina Hernandez-Salinas, Alejandra Z. Vielma, Mario Castillo-Ruiz, Victoria Velarde, Magdiel Salgado, Juan C. Saez
Summary: Individuals with diabetes mellitus experience skeletal muscle myopathy characterized by atrophy. The mechanism behind this muscular alteration is unclear, making it difficult to design effective treatments. In this study, it was found that boldine, a compound that inhibits non-selective channels, prevented skeletal muscle fiber atrophy in diabetic rats. This was attributed to the blocking of connexin hemichannels and P2X(7) receptors. Additionally, boldine prevented high glucose-induced increase in sarcolemma permeability and expression of NLRP3, suggesting that it could potentially be used as a therapeutic agent for muscular complications in diabetes.
Review
Biochemistry & Molecular Biology
Claudia Garcia-Rodriguez, Paula Mujica, Javiera Illanes-Gonzalez, Araceli Lopez, Camilo Vargas, Juan C. Saez, Arlek Gonzalez-Jamett, Alvaro O. Ardiles
Summary: Probenecid, an old uricosuric agent, has been used to treat gout and reduce renal excretion of antibiotics. Recent studies have shown that Probenecid has the ability to interact with membrane proteins, indicating potential therapeutic applications in medicine. It has been found to have neuroprotective, antiepileptic, and anti-inflammatory properties, making it useful in the treatment of neurological and neurodegenerative diseases. Despite its declining clinical use, Probenecid shows promise in preclinical research as a strategy to enhance drug bioavailability in the central nervous system.
Article
Biochemistry & Molecular Biology
Alvaro R. R. Ruiz-Fernandez, Leonardo Campos, Felipe Villanelo, Jose Antonio Garate, Tomas Perez-Acle
Summary: This study integrates molecular dynamics simulations and machine learning techniques to explore the physiological implications of nanosecond pulsed electric field (nsPEF). It uncovers a new and underexplored phenomenon, protein-mediated electroporation. By focusing on the voltage-sensing domain (VSD) of the NaV1.5 sodium cardiac channel, the researchers analyze the structures that form pores under nsPEF stimulation, providing insights into the defibrillation effect of nsPEF. The findings reveal that the selected VSD of NaV1.5 forms pores in a distinct manner from traditional VSD opening, expanding our understanding of nsPEF and its interaction with protein channels.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)