Adenosine deaminase (ADA) is a purine metabolism enzyme that catalyses the breakdown of adenosine and deoxyadenosine. The enzyme is important in several cellular processes, including the innate immune response and cellular differentiation, and it is also an important enzyme for the maintenance of brain homeostasis, in part due to its regulation of adenosine. Aberrant regulation of ADA enzyme activity has been linked to several neurodegenerative diseases and diseases that can result in neurological impairment. However, the mechanisms behind altered ADA regulation and how this leads to the development of neurological dysfunction are poorly characterised. This review summarises the current research on ADA and its role and regulation in disease pathology, with a focus on the central nervous system (CNS) and the neurodegenerative disease, amyotrophic lateral sclerosis (ALS).
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http://dx.doi.org/10.14670/HH-18-404 | DOI Listing |
Genes (Basel)
January 2025
Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
In the field of RNA therapy, innovative approaches based on adenosine deaminases acting on RNA (ADAR)-mediated site-directed RNA editing (SDRE) have been established, providing an exciting opportunity for RNA therapeutics. ADAR1 and ADAR2 enzymes are accountable for the predominant form of RNA editing in humans, which involves the hydrolytic deamination of adenosine (A) to inosine (I). This inosine is subsequently interpreted as guanosine (G) by the translational and splicing machinery because of their structural similarity.
View Article and Find Full Text PDFInt J Neonatal Screen
January 2025
Key Proteo, Inc., Seattle, WA 98122, USA.
For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of signature peptides as a surrogate marker for the protein in dried blood spots (DBSs) has been shown to successfully identify patients with Wilson Disease (WD) and three life-threatening inborn errors of immunity, X-linked agammaglobulinemia (XLA), Wiskott-Aldrich syndrome (WAS), and adenosine deaminase deficiency (ADAD). A novel proteomic-based multiplex assay to detect these four conditions from DBS using high-throughput LC-MS/MS was developed and validated.
View Article and Find Full Text PDFTheriogenology
January 2025
Department of Animal Science, College of Agriculture, Yanbian University, Yanji, 133000, China. Electronic address:
Follicular fluid extracellular vesicles are beneficial for in vitro oocyte maturation and development; however, their effect on the expression profiles of oocyte microRNAs (miRNAs) and the roles of related miRNAs are unknown. In this study, we aimed to investigate miRNA expression in mature oocytes cultured in follicular fluid extracellular vesicles and the effect of miRNA-125a (miR-125a) on oocyte maturation. The expression profiles of the miRNAs were determined by microRNA sequencing, followed by target gene prediction analysis.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China.
We assessed the safety and efficacy of rhFSH-CTP, a novel long-acting FSH agent, in controlled ovarian hyperstimulation for patients undergoing ART. A multi-center, open-label, randomized, positive-control, non-inferiority clinical trial was conducted. The study consisted of a phase III randomized design, with a 1:1 ratio favoring the rhFSH-CTP group over the control group.
View Article and Find Full Text PDFFront Med
January 2025
International Center for Aging and Cancer (ICAC), Hainan Medical University, Haikou, 571199, China.
Adenosine, a critical molecule regulating cellular function both inside and outside cells, is controlled by two human adenosine deaminases: ADA1 and ADA2. While ADA1 primarily resides in the cytoplasm, ADA2 can be transported to lysosomes within cells or secreted outside the cell. Patients with ADA2 deficiency (DADA2) often suffer from systemic vasculitis due to elevated levels of TNF-α in their blood.
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