Genes (Basel)
December 2024
Department of Medicine, University of British Columbia, Vancouver, BC V5M 1M9, Canada.
: Cardiovascular disease is a leading cause of mortality globally and a major contributor to disability. Traditional risk factors, as initially established in the FRAMINGHAM study, have helped to stratify populations and identify patients for early intervention. Incorporating genetic factors enhances risk stratification tools, enabling the earlier identification of individuals at increased risk and facilitating more targeted and effective risk factor modifications.
View Article and Find Full Text PDFPostgrad Med J
January 2025
Department of Pediatric Metabolic Diseases, University of Health Sciences, Ankara Etlik City Hospital, Ankara 06170, Turkey.
Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Neurology and MetabERN; Esplugues de Llobregat, Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Cell trafficking is a tightly regulated biological process for the exchange of signals and metabolites between cell compartments, including four main processes: membrane trafficking (transport of membrane-bound vesicles), autophagy, transport along the cytoskeleton, and membrane contact sites. These processes are cross-sectional to cellular functions, ranging from the transportation of membrane proteins, membranes, and organelles to the elimination of damaged proteins and organelles. In consequence, cell trafficking is crucial for cell survival and homeostasis, serving as a cornerstone for cellular communication and facilitating interactions both with the surrounding environment and between different organelles.
View Article and Find Full Text PDFEpilepsia Open
December 2024
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity. These characteristics make it particularly challenging to establish their targeted therapies, and many of the IMEs are treated nowadays only symptomatically and supportively.
View Article and Find Full Text PDFHum Gene Ther
December 2024
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Adeno-associated virus (AAV) vectors have demonstrated safety and efficacy for gene transfer to hepatocytes in preclinical models, in various clinical trials and from a clinical experience with a growing number of approved gene therapy products. Although the exact duration is unknown, the expression of therapeutic genes in hepatocytes remains stable for several years after a single administration of the vector at clinically relevant doses in adult patients with hemophilia and other inherited metabolic disorders. However, clinical applications, especially for diseases requiring high AAV vector doses by intravenous administrations, have raised several concerns.
View Article and Find Full Text PDFMol Genet Metab
December 2024
Division of Metabolism, University Children's Hospital Zürich, Zurich, Switzerland. Electronic address:
Dysmorphisms, or physical abnormalities in appearance, can vary in frequency and severity among individuals with inherited metabolic disorders (IMD). The prevalence of dysmorphisms in these disorders can range from rare occurrences to more common features, depending on the specific disorder and its genetic characteristics. It is important to note that not all individuals with IMDs will exhibit dysmorphic features, and the presence of such features may vary widely among different types of metabolic disorders.
View Article and Find Full Text PDFGenes (Basel)
November 2024
Section of Nephrology, Department of Medicine, Università degli Studi di Verona, Piazzale L.A. Scuro 10, 37134 Verona, Italy.
ACS Pharmacol Transl Sci
November 2024
BIOCEV, First Faculty of Medicine, Charles University, 252 50 Vestec, Czech Republic.
Head and neck cancers (HNC) are aggressive, difficult-to-treat tumors that can be caused by genetic factors but mainly by lifestyle or infection caused by the human papillomavirus. As the sixth most common malignancy, it presents a formidable therapeutic challenge with limited therapeutic modalities. Curcumin, a natural polyphenol, is appearing as a promising multitarget anticancer and antimetastatic agent.
View Article and Find Full Text PDFAnn Med Surg (Lond)
November 2024
Ternopil National Medical University, Ternopil, Ukraine.
Lysosomal storage diseases (LSDs) encompass a group of rare inherited metabolic disorders characterized by the accumulation of undegraded substrates within lysosomes, leading to multisystemic manifestations, including profound neurological involvement. This article provides a concise overview of the neurological manifestations of LSDs, with a focus on central nervous system (CNS) involvement and treatment strategies. While the paper intricacies of each LSD subtype and its associated CNS manifestations, it aims to provide a summary of the essential findings and implications.
View Article and Find Full Text PDFJ Allergy Clin Immunol
November 2024
Laboratory for Paediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:
J Inherit Metab Dis
November 2024
NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Biochim Biophys Acta Bioenerg
January 2025
Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Warsaw, Poland. Electronic address:
Neurodegeneration with brain iron accumulation (NBIA) is a broad, heterogeneous group of rare inherited diseases (1-3 patients/1,000,000 people) characterized by progressive symptoms associated with excessive abnormal iron deposition in the brain. Approximately 15,000-20,000 individuals worldwide are estimated to be affected by NBIA. NBIA is usually associated with slowly progressive pyramidal and extrapyramidal symptoms, axonal motor neuropathy, optic nerve atrophy, cognitive impairment and neuropsychiatric disorders.
View Article and Find Full Text PDFNeurodegener Dis Manag
October 2024
Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Handb Clin Neurol
September 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom. Electronic address:
Neurotherapeutics
September 2024
Department of Biochemistry and Molecular Biology, College of Medicine, University of Florida, Gainesville, FL, USA; Center for Advanced Spatial Biomolecule Research (CASBR), University of Florida, Gainesville, FL, USA. Electronic address:
Nutrients
September 2024
Department of Internal Medicine, University of Genoa, 16132 Genoa, Italy.
Curr Drug Targets
November 2024
School of Biosciences and Technology, Vellore Institute of Technology, Vellore, India.
In recent years, mitochondria have gained significant interest in the field of biomedical research due to their impact on aging, human health, and other advanced findings in metabolic functions. The latest finding shows that metabolic interventions are a leading cause of several diseases, which has sparked interest in finding new therapeutic treatments. Apart from this, the unique inheritance of genetic material from mother to offspring can help scientists find ways to prevent mitochondrial inherited diseases.
View Article and Find Full Text PDFPediatr Rep
July 2024
Pediatric Emergency Room and Emergency Medicine Unit, Emergency Department, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Adv Clin Chem
August 2024
Nemours Children's Health, Wilmington, DE, United States; University of Delaware, Newark, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:
Glycosaminoglycans (GAGs) are sulfated polysaccharides comprising repeating disaccharides, uronic acid (or galactose) and hexosamines, including chondroitin sulfate, dermatan sulfate, heparan sulfate, and keratan sulfate. Hyaluronan is an exception in the GAG family because it is a non-sulfated polysaccharide. Lysosomal enzymes are crucial for the stepwise degradation of GAGs to provide a normal function of tissues and extracellular matrix (ECM).
View Article and Find Full Text PDFInt J Hematol
September 2024
Department of Pediatrics, School of Medicine, Imam Khomeini Hospital, Ilam University of Medical Sciences, Ilam, Iran.
Mol Genet Metab
August 2024
Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, USA.
Mol Genet Metab
August 2024
Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. Electronic address:
The malate aspartate shuttle (MAS) plays a pivotal role in transporting cytosolic reducing equivalents - electrons - into the mitochondria for energy conversion at the electron transport chain (ETC) and in the process of oxidative phosphorylation. The MAS consists of two pairs of cytosolic and mitochondrial isoenzymes (malate dehydrogenases 1 and 2; and glutamate oxaloacetate transaminases 1 and 2) and two transporters (malate-2-oxoglutarate carrier and aspartate glutamate carrier (AGC), the latter of which has two tissue-dependent isoforms AGC1 and AGC2). While the inner mitochondrial membrane is impermeable to NADH, the MAS forms one of the main routes for mitochondrial electron uptake by promoting uptake of malate.
View Article and Find Full Text PDFDiagnostics (Basel)
June 2024
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs). The aim of this manuscript was to provide a comprehensive overview on liver involvement in LSDs, focusing on clinical manifestation and its pathomechanisms. Gaucher disease, acid sphingomyelinase deficiency, and lysosomal acid lipase deficiency were thoroughly reviewed, with hepatic manifestation being a dominant clinical phenotype.
View Article and Find Full Text PDFNeuro Oncol
November 2024
Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background: The outcome of children with medulloblastoma (MB) and Fanconi Anemia (FA), an inherited DNA repair deficiency, has not been described systematically. Treatment is complicated by high vulnerability to treatment-associated side effects, yet structured data are lacking. This study aims to give a comprehensive overview of clinical and molecular characteristics of pediatric FA MB patients.
View Article and Find Full Text PDFHepatol Int
October 2024
Paediatric Liver, Gastroenterology and Nutrition Centres, King's College Hospital NHS Trust, London, UK.
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