Article
Genetics & Heredity
J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper
Summary: Research shows that intracerebroventricular enzyme replacement therapy can delay the onset of symptoms in presymptomatic patients with neuronal ceroid lipofuscinosis type 2 (CLN2 disease), advocating for early treatment initiation before symptom onset in larger cohort studies.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Biochemistry & Molecular Biology
Milda Reith, Lena Zeltner, Karin Schaeferhoff, Dennis Witt, Theresia Zuleger, Tobias B. Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels, Katarina Stingl, Nicole Weisschuh
Summary: This study reports two closely related NCLs patients from a consanguineous Turkish family, who exhibited marked intrafamilial variability in the age at onset and severity of symptoms. Diagnostic genetic testing identified a novel synonymous variant in MFSD8 that was predicted to cause exon skipping and result in a truncated protein.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Paschalis Nicolaou, George A. Tanteles, Christina Votsi, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Kyproula Christodoulou, Yiolanda-Panayiota Christou
Summary: Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders characterized by neurodegeneration and cognitive decline. In this study, clinical and genetic findings of three patients from two Greek-Cypriot families with late-infantile juvenile NCL (JNCL) were reported, showing variants in the CLN6 gene and slightly different symptoms. In silico prediction and structural analyses suggest that the identified CLN6 variants are likely pathogenic.
FRONTIERS IN GENETICS
(2021)
Article
Clinical Neurology
Shlomit Ezer, Muhannad Daana, Julien H. Park, Shira Yanovsky-Dagan, Ulrika Nordstrom, Adily Basal, Simon Edvardson, Ann Saada, Markus Otto, Vardiella Meiner, Stefan L. Marklund, Peter Munch Andersen, Tamar Harel
Summary: Pathogenic variants in the SOD1 gene are associated with a severe motor-neurological syndrome in infants, characterized by global developmental delay and movement impairments. This study identified a homozygous loss-of-function variant in the SOD1 gene in an infant with severe neurological symptoms. Further analysis showed that this variant leads to instability and degeneration of the SOD1 protein. The study highlights the importance of specific valine residues in the SOD1 protein and suggests implications for future therapeutic research.
Review
Biochemistry & Molecular Biology
I. Basak, H. E. Wicky, K. O. McDonald, J. B. Xu, J. E. Palmer, H. L. Best, S. Lefrancois, S. Y. Lee, L. Schoderboeck, S. M. Hughes
Summary: Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease caused by mutations in thirteen CLN genes. Mutations in the CLN5 gene lead to a form of variant late-infantile NCL, with widespread protein expression in various tissues. Research on CLN5 helps to understand lysosomal biology and develop efficient therapies for CLN5 Batten disease.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Review
Genetics & Heredity
Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wolynska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn
Summary: Mutations in the CLN8 gene can cause late-infantile neuronal ceroid lipofuscinosis (LINCL), and a novel CLN8 mutation was identified in a female pediatric patient. This case highlights the presence of a continuous spectrum of CLN8-associated phenotypes.
Article
Multidisciplinary Sciences
Corina-Marcela Rus, Daniel L. Polla, Sebastiano Di Bucchianico, Steffen Fischer, Joerg Hartkamp, Guido Hartmann, Yunus Alpagu, Claudia Cozma, Ralf Zimmermann, Peter Bauer
Summary: This study analyzed the metabolic changes in CLN6 disease patients and identified potential biomarkers for diagnosis and disease monitoring. The most impacted metabolic profile was associated with sphingolipids, glycerophospholipids metabolism, and calcium signaling. Fifteen metabolites were found to be significantly different between disease and control groups, and they were downregulated in the disease group.
SCIENTIFIC REPORTS
(2023)
Article
Veterinary Sciences
Shinji Tamura, Masaya Tsuboi, Naotami Ueoka, Shoko Doi, Yumiko Tamura, Kazuyuki Uchida, Akira Yabuki, Osamu Yamato
Summary: This case study presents a male Shikoku Inu diagnosed with adult-onset neuronal ceroid lipofuscinosis, characterized by progressive gait abnormality, neurological deficits, and visual impairments. Pathologically, there were pigment deposits and membranous material accumulation in the neurons.
VETERINARY SCIENCES
(2021)
Review
Clinical Neurology
Keigo Takahashi, Hemanth R. Nelvagal, Jenny Lange, Jonathan D. Cooper
Summary: This article summarizes the latest understanding of glial pathologies and their contribution to the pathogenesis of NCLs, highlighting the challenges that require further research.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Naser Gilani, Ehsan Razmara, Mehmet Ozaslan, Ihsan Kareem Abdulzahra, Saeid Arzhang, Ali Reza Tavasoli, Masoud Garshasbi
Summary: This study revealed a novel homozygous frameshift variant in the CLN3 gene as the most likely disease-causing variant in a large Iraqi consanguineous family with juvenile neuronal ceroid lipofuscinosis. It expanded our understanding of the clinical and genetic spectrum of JNCL.
ACTA NEUROLOGICA BELGICA
(2021)
Letter
Genetics & Heredity
Thouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, Hedia Klaa, Hanene Benrhouma, Aida Rouissi, Catherine Caillaud, Myriam Chaabouni, Najoua Miladi, Soumeya Bekri, Ilhem Ben Youssef-Turki
Summary: This study involved 13 patients diagnosed with neuronal ceroid lipofuscinosis, which is a group of rare genetically-determined neurodegenerative diseases characterized by clinical and genetic heterogeneity. Brain MRI and electroencephalogram aid in diagnosis.
Article
Clinical Neurology
Mingping Lan, Yanjuan Wang, Sixiu Li, Lili Zhao, Ping Liu, Wenguang Hu
Summary: Infantile epileptic spasms syndrome (IESS) is a common epileptic encephalopathy of infancy characterized by epileptic spasms, hypsarrhythmia, and developmental delay. Genetic factors, including mutations in the SETD1A gene, play a significant role in the development of IESS. This study reports a case of IESS caused by a de novo mutation in exon 12 of the SETD1A gene and provides a summary of the existing literature on SETD1A gene-related epilepsy.
FRONTIERS IN NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Konrad Kaminiow, Sylwia Kozak, Justyna Paprocka
Summary: Neuronal ceroid lipofuscinoses (NCLs) are rare neurodegenerative disorders that affect children and adults. They are classified based on shared clinical symptoms and pathology. Thirteen autosomal recessive gene variants and one autosomal dominant gene variant have been identified in NCL. Symptoms of NCL include vision loss, mental and motor deterioration, and seizures.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Connolly Steigerwald, Jill Borsuk, John Pappas, Miranda Galey, Anna Scott, Joseph M. Devaney, Danny E. Miller, Nicolas J. Abreu
Summary: This study presents two siblings with a clinical diagnosis of CLN2 disease but no identifiable TPP1 variants after standard clinical testing. Long-read sequencing identified a homozygous deep intronic variant predicted to affect splicing, which was confirmed by clinical DNA and RNA sequencing. This case demonstrates the complementarity of traditional laboratory assays and emerging molecular technologies in providing precise molecular diagnosis.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Genetics & Heredity
R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodriguez, A. Gutierrez-Mata, L. Hernandez-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro
Summary: This study investigated the clinical characteristics and related mutations of Batten disease patients in Costa Rica. The previously described c.214G>T mutation in the CLN6 gene was found to be the most common causative mutation of Batten disease in this region. The clinical presentation of patients with this mutation is similar to that of CLN6 Batten disease patients in other regions.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Endocrinology & Metabolism
Lucie Renault, Liliana C. Patino, Francoise Magnin, Brigitte Delemer, Jacques Young, Paul Laissue, Nadine Binart, Isabelle Beau
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2020)
Review
Peripheral Vascular Disease
Paul Laissue, Daniel Vaiman
CURRENT HYPERTENSION REPORTS
(2020)
Article
Multidisciplinary Sciences
Aurelien Ducat, Betty Couderc, Anthony Bouter, Louise Biquard, Rajaa Aouache, Bruno Passet, Ludivine Doridot, Marie-Benoite Cohen, Pascale Ribaux, Clara Apicella, Irene Gaillard, Sophia Palfray, Yulian Chen, Alexandra Vargas, Amelie Jule, Leo Frelin, Julie Cocquet, Camino Ruano San Martin, Sebastien Jacques, Florence Busato, Jorg Tost, Celine Mehats, Paul Laissue, Jean-Luc Vilotte, Francisco Miralles, Daniel Vaiman
Article
Obstetrics & Gynecology
Karen Marcela Jimenez, Adrien Morel, Laura Parada-Nino, Maria Alejandra Gonzalez-Rodriguez, Stephanie Florez, David Bolivar-Salazar, Silvia Becerra-Bayona, Angel Aguirre-Garcia, Tatiana Gomez-Murcia, Luisa Fernanda Castillo, Carolina Carlosama, Javier Ardila, Daniel Vaiman, Norma Serrano, Paul Laissue
PREGNANCY HYPERTENSION-AN INTERNATIONAL JOURNAL OF WOMENS CARDIOVASCULAR HEALTH
(2020)
Article
Biology
Victoria J. Sugrue, Joseph Alan Zoller, Pritika Narayan, Ake T. Lu, Oscar J. Ortega-Recalde, Matthew J. Grant, C. Simon Bawden, Skye R. Rudiger, Amin Haghani, Donna M. Bond, Reuben R. Hore, Michael Garratt, Karen E. Sears, Nan Wang, Xiangdong William Yang, Russell G. Snell, Timothy A. Hore, Steve Horvath
Summary: Research reveals that castrated male sheep age at a slower rate than intact males, partly due to the removal of androgens. Specific CpG dinucleotides sensitive to androgens show differences in methylation between intact males and castrated males/females, suggesting a potential mechanism for male-accelerated aging in divergent mammalian species.
Article
Pharmacology & Pharmacy
Daniel Felipe Silgado-Guzman, Mariana Angulo-Aguado, Adrien Morel, Maria Jose Nino-Orrego, Daniel-Armando Ruiz-Torres, Nora Constanza Contreras Bravo, Carlos Martin Restrepo, Oscar Ortega-Recalde, Dora Janeth Fonseca-Mendoza
Summary: This study investigated the genetic variability of drug-related genes in a Colombian population using whole-exome sequencing. The findings suggest that rare genetic variants play a significant role in interindividual variability in drug response. Additionally, the genetic frequencies in the Colombian population differed from other Latin-American populations.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Medicine, General & Internal
Mariana Angulo-Aguado, David Corredor-Orlandelli, Juan Camilo Carrillo-Martinez, Monica Gonzalez-Cornejo, Eliana Pineda-Mateus, Carolina Rojas, Paula Triana-Fonseca, Nora Constanza Contreras Bravo, Adrien Morel, Katherine Parra Abaunza, Carlos M. Restrepo, Dora Janeth Fonseca-Mendoza, Oscar Ortega-Recalde
Summary: This study evaluated the association of non-genetic factors and three polymorphisms with COVID-19 severity and long-term symptoms. Age, sex, hypertension, and type 2 diabetes mellitus were found to be significantly associated with disease severity. The polymorphism LZTFL1 rs11385942 was identified as a potential biomarker for COVID-19 severity. Long-term symptoms were also found to be associated with disease severity.
FRONTIERS IN MEDICINE
(2022)
Article
Biology
Alexandria Ragsdale, Oscar Ortega-Recalde, Ludovic Dutoit, Anne A. Besson, Jolyn H. Z. Chia, Tania King, Shinichi Nakagawa, Anthony Hickey, Neil J. Gemmell, Timothy Hore, Sheri L. Johnson
Summary: This study investigates the cross-generational acclimation to hypoxia using zebrafish as a model. The results show that short-term paternal exposure to hypoxia can enhance the offspring's tolerance to acute hypoxia. The study also reveals upregulation of hemoglobin expression in the offspring of hypoxia-exposed males, suggesting the maintenance of an epigenetic memory of past hypoxia exposure. The findings imply that the environmentally induced information can be transferred to subsequent generations, enabling them to cope with hypoxic conditions.
Article
Infectious Diseases
Betsy E. Castro, Rafael Rios, Lina P. Carvajal, Monica L. Vargas, Monica P. Cala, Lizeth Leon, Blake Hanson, An Q. Dinh, Oscar Ortega-Recalde, Carlos Seas, Jose M. Munita, Cesar A. Arias, Sandra Rincon, Jinnethe Reyes, Lorena Diaz
Summary: This study characterized the biomolecular profile of clinical hVISA and found that the mechanism of hVISA involves major changes in regulatory systems, expression of virulence factors, and reduction in glycolysis via TCA cycle.
JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
(2023)
Article
Multidisciplinary Sciences
Mirunalini Ravichandran, Dominik Rafalski, Claudia I. Davies, Oscar Ortega-Recalde, Xinsheng Nan, Cassandra R. Glanfield, Annika Kotter, Katarzyna Misztal, Andrew H. Wang, Marek Wojciechowski, Michal Razew, Issam M. Mayyas, Olga Kardailsky, Uwe Schwartz, Krzysztof Zembrzycki, Ian M. Morison, Mark Helm, Dieter Weichenhan, Renata Z. Jurkowska, Felix Krueger, Christoph Plass, Martin Zacharias, Matthias Bochtler, Timothy A. Hore, Tomasz P. Jurkowski
Summary: TET enzymes catalyze the oxidation of 5-methylcytosine bases in DNA and have a strong preference for CGs embedded within transcription factor-binding sites. This preference is determined by intrasubstrate interactions and the flanking CG sequence. The study of TET sequence preferences is physiologically relevant and helps explain the process of DNA demethylation. The most and least favorable TET motifs represent DNA sites bound by methylation-sensitive immediate-early transcription factors and octamer-binding transcription factor 4 (OCT4), shedding light on the function of TET in transcriptional responses and pluripotency support.
Article
Pharmacology & Pharmacy
Juan Fernando Parada-Marquez, Nicolas David Maldonado-Rodriguez, Paula Triana-Fonseca, Nora Constanza Contreras-Bravo, Carlos Alberto Calderon-Ospina, Carlos M. M. Restrepo, Adrien Morel, Oscar Javier Ortega-Recalde, Daniel Felipe Silgado-Guzman, Mariana Angulo-Aguado, Dora Janeth Fonseca-Mendoza
Summary: This study describes the rare and common variants found in genes related to the metabolism of analgesic and anesthetic drugs in the Colombian population. The results identified 148 molecular variants potentially related to the therapeutic response to commonly used anesthesia drugs. The allelic frequency comparison showed that the Colombian population has a unique pharmacogenomic profile for anesthesia drugs.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Biochemical Research Methods
Karen Marcela Jimenez, Dora Janeth Fonseca-Mendoza, Adrien Morel, Oscar Ortega-Recalde, Nora Constanza Contreras Bravo, Camilo Andres Velandia-Piedrahita, Adriana Steevens, Luisa Daniela Caldas, Juan Pablo Ribon, Martha Sanchez, Carlos Martin Restrepo, Rodrigo Cabrera
Summary: RT-PCR tests have become the gold standard for detecting the SARS-CoV-2 virus. This study presents an alternative implementation using widely available and low-cost equipment and reagents, which shows comparable sensitivity and specificity to automated detection methods. This method has the potential to be adopted by diagnostic laboratories worldwide.
METHODS AND PROTOCOLS
(2022)
Article
Peripheral Vascular Disease
David Corredor-Orlandelli, Santiago Sambracos-Parrado, Santiago Mantilla-Garcia, Josue Tovar-Tirado, Valentina Vega-Ramirez, Santiago David Mendoza-Ayus, Laura Catalina Pena, Maria Fernanda Leal, Juliana Rodriguez-Carrillo, Juanita Leon-Torres, Juan Mauricio Pardo-Oviedo, Katherine Parra Abaunza, Nora Contreras Contreras Bravo, Oscar Ortega-Recalde, Dora Janeth Fonseca Mendoza
Summary: The study investigated the association of PON1 p.Q192R with CAD and clopidogrel response in the Colombian population, finding a positive association between the 192R allele and decreased susceptibility to CAD, but no association with HPR.
VASCULAR HEALTH AND RISK MANAGEMENT
(2021)
Article
Pharmacology & Pharmacy
Carlos Alberto Calderon-Ospina, Mario Hernandez-Somerson, Ana Maria Garcia, Adriana Mejia, Caroll Tamayo-Agudelo, Paul Laissue, Dora Janeth Fonseca Mendoza
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2020)