Review
Genetics & Heredity
Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, Joao Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga-Jauregui
Summary: Rare diseases have significant impacts in Latin America, but there is no consensus on their definition. Diagnostic delays create burdens for patients, caregivers, healthcare systems, and society. This review explores the barriers to implementing newborn screening programs and early diagnostic methods for rare diseases in Latin America, and provides recommendations to address these challenges.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Zefu Chen, Yu Zheng, Yongxin Yang, Yingzhao Huang, Sen Zhao, Hengqiang Zhao, Chenxi Yu, Xiying Dong, Yuanqiang Zhang, Lianlei Wang, Zhengye Zhao, Shengru Wang, Yang Yang, Yue Ming, Jianzhong Su, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Nan Wu
Summary: In recent years, exome sequencing has been proven to be highly useful in diagnosing Mendelian disorders. However, the interpretation of exome sequencing data can still be a time-consuming process. To address this issue, researchers have developed PhenoApt, a phenotype-driven gene prioritization tool that utilizes clinical expertise and machine learning algorithms to accelerate the identification of causative genes.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Nutrition & Dietetics
Maria F. Kroker-Lobos, Monica Mazariegos, Monica Guamuch, Manuel Ramirez-Zea
Summary: Adding micronutrients to ultraprocessed products can affect consumer perception of the nutritional quality and healthfulness, and potentially increase their consumption. Countries need to implement national legislations through a food systems approach to regulate the marketing and labeling of ultraprocessed products. Further research is also needed to guide the development of food fortification strategies.
Article
Management
Shiyang Gong, Qian Li, Song Su, Juanjuan Zhang
Summary: This paper introduces an innovative application of molecular genetics in marketing, showing that genetic variants related to educational attainment can predict sales performance. Genetics and selling effort both contribute to sales performance, with genetics having a greater impact than personality traits. The study further suggests that adaptive learning, reflected in salespeople's customer orientation and opportunity recognition skills, may explain the relationship between genes and sales. The findings have important implications for sales management and highlight the value of genetic research in the marketing field.
MANAGEMENT SCIENCE
(2023)
Review
Clinical Neurology
Jorge J. Llibre-Guerra, Maria Isabel Behrens, Mirna Lie Hosogi, Lucia Montero, Teresa Torralva, Nilton Custodio, Erika Mariana Longoria-Ibarrola, Margarita Giraldo-Chica, David Aguillon, Angela Hardi, Gladys E. Maestre, Valeria Contreras, Celeste Doldan, Lissette Duque-Penailillo, Heike Hesse, Norbel Roman, Dhara Angelina Santana-Trinidad, Christian Schenk, Ninoska Ocampo-Barba, Ricardo Lopez-Contreras, Ricardo Nitrini
Summary: In Latin America, there has been a substantial increase in frontotemporal dementia (FTD) research over the past two decades, with a focus on clinical and neuropsychological features. However, there is a lack of large studies on prevalence, biomarkers, and neuropathology of FTD in the region. Future studies should emphasize clinical diagnosis, genetics, biomarkers, and neuropathological research to better estimate the impact of FTD syndromes in Latin America.
FRONTIERS IN NEUROLOGY
(2021)
Article
Multidisciplinary Sciences
Laura E. Gutierrez, Natalia Elorriaga, Luz Gibbons, Santiago Melendi, Martin Chaparro, Matias Calandrelli, Fernando Lanas, Nora Mores, Jacqueline Ponzo, Rosana Poggio, Mabel Berrueta, Vilma Irazola
Summary: This study focuses on the impact of the food and physical activity built environment on obesity and non-communicable diseases in four cities in the Southern Cone of Latin America. By evaluating 139 representative neighborhoods and conducting direct observation of the built environment, valuable data is provided. Understanding the influence of the environment on cardiovascular risk factors and individual habits can help explain NCD outcomes and plan urban policies.
Article
Plant Sciences
Anne Brown, David Grant, Rex T. Nelson
Summary: QTL play a key role in studying seed quality traits and breeding, but identifying the specific genes behind each QTL would greatly enhance our understanding of the genetic mechanisms.
Editorial Material
Physics, Applied
Carolina Brito, David Vanegas Forero, Karen Hallberg, Gonzalo Palma, Joel Saavedra Alvear, Gonzalo Tancredi, Wilfredo Tavera
Summary: The southern skies and tall mountains of Latin America have nurtured a rich history of astronomy in the continent. Today, the continent is home to over 80 observatories, serving as collaborative research hubs for the region and the world. However, other areas of physics face challenges in fully realizing their research potential due to factors like insufficient researchers and resources. In this Viewpoint, seven physicists discuss the diverse research landscapes of different physics disciplines across the continent.
NATURE REVIEWS PHYSICS
(2023)
Review
Clinical Neurology
Claudia Duran-Aniotz, Paulina Orellana, Tomas Leon Rodriguez, Fernando Henriquez, Victoria Cabello, Maria F. Aguirre-Pinto, Tamara Escobedo, Leonel T. Takada, Stefanie D. Pina-Escudero, Oscar Lopez, Jennifer S. Yokoyama, Agustin Ibanez, Mario A. Parra, Andrea Slachevsky
Summary: Frontotemporal dementia (FTD) is a neurodegenerative disorder with clinical, genetic, and pathological heterogeneity, making accurate diagnosis challenging. The Latin American and Caribbean (LAC) region faces additional challenges in FTD research due to lack of awareness, complex genetic heritage and cultures. More research is needed on biomarkers in FTD in LAC countries to improve understanding of the disease.
FRONTIERS IN NEUROLOGY
(2021)
Article
Agriculture, Dairy & Animal Science
Tamu Yokomori, Aoi Ohnuma, Teruaki Tozaki, Takao Segawa, Takuya Itou
Summary: By using the Thoroughbred genome variant database to identify orthologues to personality-related human genes, 18 potential personality-related genes were found in horses, with 55 variants that may impact protein function. This study highlights the potential for identification of candidate genes, although the approach is less useful in horses due to a lack of supporting personality research. If future studies validate these potential associations, this bioinformatics strategy may become important in equine genetics.
Article
Biochemistry & Molecular Biology
Julia Horjus, Tineke van Mourik-Banda, Marco A. P. Heerings, Marina Hakobjan, Ward De Witte, Dorothea J. Heersema, Anne J. Jansen, Eva M. M. Strijbis, Brigit A. de Jong, Astrid E. J. Slettenaar, Esther M. P. E. Zeinstra, Erwin L. J. Hoogervorst, Barbara Franke, Wiebe Kruijer, Peter J. Jongen, Leo J. Visser, Geert Poelmans
Summary: This study identified 12 rare genetic variants associated with multiple sclerosis through whole exome sequencing and co-segregation analysis, highlighting the involvement of various biological processes related to (de-/re-)myelination and auto-immunity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
Bruno Halpern, Maria Laura da Costa Louzada, Pablo Aschner, Fernando Gerchman, Imperia Brajkovich, Jose Rocha Faria-Neto, Felix Escano Polanco, Julio Montero, Silvia Maria Marin Julia, Paulo Andrade Lotufo, Oscar H. Franco
Summary: Latin America has become the epicenter of the COVID-19 pandemic in May 2020, where obesity and its comorbidities are increasingly prevalent, particularly among individuals with lower income, and are now associated with COVID-19 severity and death. Despite social disparities and poor healthcare access, public health and individual recommendations should focus on addressing the obesity issue in this region.
Article
Business
Luis Berggrun, Emilio Cardona, Edmundo Lizarzaburu
Summary: We investigate the performance difference between high-return and low-return industries in Latin America. Our findings suggest that it is often difficult to distinguish the performance of recent winner and loser industries. We also find a lack of return continuation across industries, regardless of their size. Using idiosyncratic returns, we confirm that industry momentum does not hold in the region, and individual industry momentum is also absent. Overall, it would have been challenging to profit from persistent return differences within or between industries in our sample period.
JOURNAL OF BUSINESS RESEARCH
(2023)
Article
Medicine, General & Internal
Minhan Yi, Yun Tan, Yuze Pi, Yicen Zhou, Quanming Fei, Wangcheng Zhao, Yuan Zhang
Summary: This study analyzed the relationships between different candidate gene variants and the risk of obstructive sleep apnoea (OSA), identifying 11 variants associated with OSA risk and showing ethnicity differences in East Asian and European subgroups.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2022)
Review
Endocrinology & Metabolism
Lucas Bandeira Marchesan, Ramon Bossardi Ramos, Poli Mara Spritzer
Summary: The metabolic profiles of women with PCOS in Latin America are worse than those without PCOS in the same region, with higher anthropometric and metabolic parameters. Further studies evaluating metabolic comorbidities and distinct PCOS phenotypes in different Latin American countries are needed for primary and secondary prevention of PCOS in the region.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Yeimy Gonzalez-Giraldo, Diego A. Forero, George E. Barreto, Andres Aristizabal-Pachon
Summary: The study revealed that astrocytes induce expression of genes associated with stress response and immune system regulation when exposed to stressful stimuli, while genes related to neurogenesis are downregulated. Several identified genes were found to be important hubs in the protein-protein interaction analysis.
Meeting Abstract
Clinical Neurology
Lucia Uribe, Gabriela Arevalo, Gabriela Davila, Sandra Baez, Diego A. Forero, Martha Liliana Trujillo-Guiza
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2021)
Meeting Abstract
Clinical Neurology
Carlos Orozco, Yeimy Gonzalez-Giraldo, Diego A. Bonilla, Janitza Montalvo-Ortiz, Diego A. Forero
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2021)
Meeting Abstract
Clinical Neurology
Yeimy Gonzalez-Giraldo, Diego A. Forero, Andres Aristizabal-Pachon
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2021)
Meeting Abstract
Clinical Neurology
Carlos Orozco, Yeimy Gonzalez-Giraldo, Diego A. Bonilla, Diego A. Forero
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2021)
Article
Genetics & Heredity
Carlos A. Orozco, Yeimy Gonzalez-Giraldo, Diego A. Bonilla, Diego A. Forero
Summary: Physical exercise induces important system disturbances in the human body. Genome-wide expression studies can help understand the molecular mechanisms behind the complexity of adaptations to exercise. The study meta-analyzed available data on the effect of exhaustive exercise in blood cells, identified differentially expressed genes, and revealed their key roles in cellular adaptations to exercise-induced stress. Comparison with muscle tissue gene expression patterns identified common genes.
Article
Biochemistry & Molecular Biology
Diego A. Bonilla, Yurany Moreno, Jorge L. Petro, Diego A. Forero, Salvador Vargas-Molina, Adrian Odriozola-Martinez, Carlos A. Orozco, Jeffrey R. Stout, Eric S. Rawson, Richard B. Kreider
Summary: The immune function is closely related to iron homeostasis and allostasis. This study used bioinformatics to analyze the relationship between iron metabolism and the immune system, and identified potential biomarkers for stress-induced immunosuppression. The findings are consistent with experimental evidence and have the potential to be new genetic markers for different stressful conditions.
Review
Biochemistry & Molecular Biology
Diana L. Nunez-Rios, Jose J. Martinez-Magana, Sheila T. Nagamatsu, Diego E. Andrade-Brito, Diego A. Forero, Carlos A. Orozco-Castano, Janitza L. Montalvo-Ortiz
Summary: Posttraumatic stress disorder (PTSD) is a chronic and multifactorial disorder, with potential involvement of the immune system in its pathogenesis, characterized by inflammatory dysregulation. Activation of the HPA axis and subsequent inflammatory system activation are common mechanisms orchestrating exaggerated immune response in PTSD, with potential contribution of epigenetic alterations.
Review
Biology
Angelica E. Ramirez, Natalia Gil-Jaramillo, Maria Alejandra Tapias, Yeimy Gonzalez-Giraldo, Andres Pinzon, Pedro J. Puentes-Rozo, Andres Felipe Aristizabal-Pachon, Janneth Gonzalez
Summary: Neurodegenerative diseases are complex disorders affecting older people worldwide, with high incidence and expensive treatments. In this review, possible factors and biomarkers for mild cognitive impairment (MCI) diagnosis based on miRNAs are compiled. miRNAs can affect cellular behavior and play an important role in the early stages of neurodegenerative diseases. Further research into biomarkers is encouraged to improve the understanding of cognitive impairment in cellular models such as astrocytes. This review highlights the importance of miRNAs in maintaining brain balance and improving early diagnosis and treatment of neurodegenerative diseases.
Review
Biology
Leonardo Lopez-Cepeda, Juan David Castro, Andres Felipe Aristizabal-Pachon, Yeimy Gonzalez-Giraldo, Andres Pinzon, Pedro J. Puentes-Rozo, Janneth Gonzalez
Summary: The diagnosis of neurodegenerative diseases (NDD) is complex and requires simpler, more accurate biomarkers. This study focuses on the identification of astrocyte-specific sncRNA signatures derived from extracellular vesicles (ADEVs) as a potential method for diagnosing NDDs.
Article
Biochemistry & Molecular Biology
Yeimy Gonzalez-Giraldo, Angela Y. Garcia Fonseca, Andres Aristizabal-Pachon
Summary: This study evaluated the impact of silencing the catalytic subunit of telomerase (TERT) on the expression of microRNAs, cell activation markers, and glial-related genes in a glioblastoma cell line. The results showed that reducing TERT gene expression led to the upregulation of ARG1 and downregulation of NES, GLUL, VIM, and hsa-miR-29b-3p. Bioinformatic analysis revealed that hsa-miR-29b target genes are associated with focal adhesion and the PI3K-Akt signaling pathway. These findings contribute to our understanding of non-telomeric functions of telomerase and provide evidence of novel genes regulated by TERT.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
(2023)
Article
Oncology
Angela Y. Garcia Fonseca, Yeimy Gonzalez-Giraldo, Jannet Gonzalez Santos, Andres F. Aristizabal-Pachon
Summary: microRNAs (miRNAs) play a role in regulating gene and protein expression in the brain and other organs. miRNA dysregulation is associated with the development of diseases, including CNS cancer. However, the specific antitumor effect of hsa-miR-516a-5p and hsa-miR-516b-5p in CNS cancer has not been evaluated.
Article
Neurosciences
Alexis Felipe Rojas-Cruz, Cynthia Alexandra Martin-Jimenez, Janneth Gonzalez, Yeimy Gonzalez-Giraldo, Andres Mauricio Pinzon, George E. Barreto, Andres Felipe Aristizabal-Pachon
Summary: Chronic intake of a high-fat diet increases saturated fatty acids in the brain causing the progression of neurodegenerative diseases. The synthetic neurosteroid tibolone is being studied for its potential protection against fatty acid toxicity, but its transcriptional effects on palmitic acid-induced lipotoxicity remain unclear.
MOLECULAR NEUROBIOLOGY
(2023)
Editorial Material
Biology
Diego A. Forero, Vaibhav Chand
Summary: In recent decades, advancements in molecular biology and genetics have had a revolutionary impact on various areas of life and health sciences. However, there is a global need for the development of more sophisticated and efficient methods in these fields. This collection aims to showcase articles featuring novel molecular biology and genetics techniques developed by scientists from around the world.
BMC RESEARCH NOTES
(2023)
