Review
Biochemistry & Molecular Biology
Christine K. C. Loo, Michael A. Pearen, Grant A. Ramm
Summary: The Hedgehog (HH) signalling pathway is crucial in controlling cell differentiation and proliferation during human development. The Sonic Hedgehog (SHH) pathway is complex and influenced by various factors, leading to different outcomes even with the same genetic mutations. The understanding of SHH signalling in human development can be further enhanced through studying specific examples and exploring the implications of SHH mutations in different disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Pediatrics
Maisa Malta, Rowim AlMutiri, Christine Saint Martin, Myriam Srour
Summary: Holoprosencephaly (HPE) is a common malformation of the prosencephalon, characterized by a continuum of brain anomalies caused by midline cleavage failure. The severity of HPE phenotype ranges widely and correlates with radiologic and facial features. Both environmental and genetic factors contribute to the etiology of HPE, with disruption of the SHH signaling pathway being the main pathophysiological mechanism.
Review
Cell Biology
Hsiao-Fan Lo, Mingi Hong, Robert S. Krauss
Summary: Many common developmental disorders are believed to be caused by a combination of genetic and environmental risk factors, which interact to affect key developmental signaling pathways and potentially lead to abnormal embryonic patterning. Holoprosencephaly (HPE) serves as a model system for understanding multifactorial etiology, with studies showing various ways in which risk factors interact to produce adverse developmental outcomes. This includes interactions between genes, oligogenic inheritance, interactions between genetic susceptibilities and environmental factors, and interactions between genetic and non-genetic risk factors. These concepts are applicable not only to HPE but also to other disorders with complex origins.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Janusz Wieslaw Blaszczyk
Summary: According to Alzheimer's Disease International, there are 55 million people worldwide living with dementia, which is a set of symptoms resulting from brain damage. The symptoms involve progressive impairments in memory, thinking, and behavior, often accompanied by emotional problems, language difficulties, and decreased motivation. Although attempts to treat dementia by addressing symptoms have failed, this narrative review aims to explain the etiology of dementia and Alzheimer's disease through the perspective of energy and cognitive metabolism dysfunction in an aging brain.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M. Alhashem, Steve Lisgo, Alberto Fernandez-Jaen, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F. Smithson, Susan Lindsay, Hayley J. Sharpe, Fowzan S. Alkuraya, Geoff Woods
Summary: Holoprosencephaly is a developmental disorder with phenotypical variabilities primarily caused by mutations in the SHH pathway genes. Variants in the PLCH1 gene may also contribute to the disorder, possibly through protein mislocalisation leading to pathogenicity.
JOURNAL OF MEDICAL GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Huiqin Guo, Haili Wu, Zhuoyu Li
Summary: Diabetes is a common metabolic disorder that greatly affects health systems worldwide. Type 2 diabetes accounts for 90% of all cases, and hyperglycemia is its main characteristic. Understanding the molecular processes involved in diabetes development is crucial for improving clinical care.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Immunology
Stefano Alivernini, Gary S. Firestein, Iain B. McInnes
Summary: Recent progress in understanding the pathogenesis of rheumatoid arthritis has led to improved treatment options. However, there are still unmet needs in terms of treatment response and tissue repair.
Review
Cardiac & Cardiovascular Systems
Micheala A. Aldred, Nicholas W. Morrell, Christophe Guignabert
Summary: Pulmonary arterial hypertension (PAH) is a complex disease characterized by alterations in the pulmonary circulation, leading to right heart failure and death. Mutations in the BMPRII gene account for a majority of PAH cases, but rare mutations in other genes have also been identified. Understanding these new PAH-related genes can provide insights into the pathogenesis and potential therapeutic targets for this incurable disorder.
CIRCULATION RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Johannes Bulk, Valentyn Kyrychenko, Philipp M. Rensinghoff, Zahra Ghaderi Ardekani, Stephan Heermann
Summary: Vision is dependent on the correct development of the eye, which is tightly connected to the development of the forebrain. Holoprosencephaly (HPE) is a developmental disorder where the eye field and the forebrain fail to separate, leading to ocular abnormalities such as cyclopia, anophthalmia, and coloboma. This study identifies the importance of a balance between Bone morphogenetic proteins (BMPs) and their antagonists in eye and forebrain cleavage, and demonstrates that dysregulation of BMP signaling results in severe forms of HPE with anophthalmia. Additionally, the study suggests that BMP signaling also affects the development of hypothalamic cells during neurulation and neural keel formation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Nitya M. Nair, Daniel T. Swarr, Maria E. Barnes-Davis
Summary: Diprosopus is an extremely rare congenital anomaly involving craniofacial duplication, with unknown etiology and pathophysiology, and no definitive genetic mutations associated with the condition. Prenatal diagnosis is crucial in detecting and managing similar conditions.
CLINICAL CASE REPORTS
(2021)
Article
Multidisciplinary Sciences
Alexander B. Smith, Matthew L. Jenior, Orlaith Keenan, Jessica L. Hart, Jonathan Specker, Arwa Abbas, Paula C. Rangel, Chao Di, Jamal Green, Katelyn A. Bustin, Jennifer A. Gaddy, Maribeth R. Nicholson, Clare Laut, Brendan J. Kelly, Megan L. Matthews, Daniel R. Evans, Daria Van Tyne, Emma E. Furth, Jason A. Papin, Frederic D. Bushman, Jessi Erlichman, Robert N. Baldassano, Michael A. Silverman, Gary M. Dunny, Boone M. Prentice, Eric P. Skaar, Joseph P. Zackular
Summary: Enterococci can shape the metabolic environment in the gut and enhance the fitness and pathogenesis of Clostridioides difficile through nutrient restriction and cross-feeding. This microbial interaction plays a role in the susceptibility to and the severity of C. difficile infection.
Book Review
Multidisciplinary Sciences
Hugh Pennington
Summary: Pathogens and pandemics have had a significant impact on human history, including the current COVID-19 pandemic, but the exact effects of these events are still highly disputed.
Review
Immunology
Brittany Jury, Charlotte Fleming, Wilhelmina M. Huston, Laurence Don Wai Luu
Summary: This mini-review outlines the factors related to the developmental cycle phase and specific pathogenesis activity of Chlamydia trachomatis, highlighting their importance for future genetic research. The factors discussed include developmental cycle stages, gene expression regulatory factors, type III secretion system and their effectors, and individual virulence factors with known impacts.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Review
Microbiology
Mart M. Lamers, Bart L. Haagmans
Summary: This Review explores the recent clinical and experimental advancements in understanding the pathogenesis of SARS-CoV-2, its interactions with host cells, and the role of the immune system in the development of severe disease, with a focus on the mechanisms underlying COVID-19-associated ARDS. The findings suggest that SARS-CoV-2 can infect the lower respiratory tract, causing alveolar damage and dysfunctional immune responses, leading to inflammation and immunopathology. These insights may contribute to the development of new therapeutic interventions against COVID-19.
NATURE REVIEWS MICROBIOLOGY
(2022)
Review
Immunology
Chen Lyu, Yonghu Sun
Summary: Vitiligo is a skin disorder characterized by the loss of melanocytes. The pathogenesis of vitiligo involves immunometabolism, including mitochondrial dysfunction, oxidative stress, and defects in metabolic pathways. These abnormalities are influenced by genetic and epigenetic factors and are associated with glucose and lipid metabolism. Melanocytes, keratinocytes, and tissue-resident memory T cells play important roles in the dysregulation of metabolic pathways in vitiligo.
FRONTIERS IN IMMUNOLOGY
(2022)
