AMPD2

Last update 08 May 2025

Basic Info

Synonyms

adenosine monophosphate deaminase 2, AMP deaminase 2, AMP deaminase isoform L

+ [2]

Introduction

AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.

100 Clinical Results associated with AMPD2

100 Translational Medicine associated with AMPD2

0 Patents (Medical) associated with AMPD2

Literatures (Medical) associated with AMPD2

01 Dec 2024·International Journal of Biological Macromolecules

Identification of a lactylation-related gene signature as the novel biomarkers for early diagnosis of acute myocardial infarction

Article

Author: Fang, Yuan ; Zhu, Dongfei ; Jiang, Can ; Yu, Yin ; Xu, Ziyang ; Huang, Dong ; Zhang, Lili ; Yang, YanPing ; Li, Shuai ; Zhang, Xue ; Wang, Yanpeng

Cardiovascular disease, particularly acute myocardial infarction (AMI), is a major global health concern. Current diagnostic methods for AMI lack sensitivity and specificity, necessitating novel biomarkers for early detection. In this study, we analyzed AMI gene expression datasets from the GEO database, employing Differential Gene Expression Analysis and WGCNA to identify key genes and co-expression modules. Lactylation-related genes (LRGs) from the MSigDB database were examined to identify those linked to AMI. Unsupervised consensus clustering classified AMI into subtypes, and machine learning models were developed for diagnosis. Immune cell infiltration was assessed using CIBERSORT, xCell, and MCPcounter, focusing on monocyte activation-related LRGs. We identified four LRGs (AMPD2, PYGL, SLC7A7, SAT1) significantly expressed in AMI, validated through in vitro experiments with primary cardiomyocytes from Sprague-Dawley rats. Our findings highlight LRGs as potential early AMI biomarkers and provide insights into myocardial repair mechanisms mediated by histone lactylation and monocytes.

01 Oct 2024·Heliyon

The critical involvement of monocytes/macrophages in the pathogenesis of primary Sjögren's syndrome: New evidence from Mendelian randomization and single-cell sequencing

Article

Author: Ding, Yimei ; Hou, Jiaqi ; Luan, Xue

BackgroundPrimary Sjögren's syndrome (pSS) stands as a chronic autoimmune disease characterized by an elusive pathogenesis. The synergy of single-cell RNA sequencing and Mendelian randomization (MR) analysis provides an opportunity to comprehensively unravel the contributory role of monocytes/macrophages in the intricate pathogenesis of pSS.MethodsDifferentially expressed genes (DEGs) of various types of immune cells were analyzed after annotating single-cell RNA sequencing (scRNA-seq) data. MR analysis of expression quantitative trait loci (eQTL) and protein quantitative trait loci (pQTL) was conducted to search for key pathogenic genes and proteins. Cellular localization of pathogenic genes was performed based on scRNA-seq data. Variations in signaling pathways between immune cells were further analyzed.ResultsA total of 1434 significant DEGs were identified. Among these, 60 genes exhibited strong relevance to the occurrence of pSS, of which 32 genes differentially expressed in monocytes/macrophages. CTSS was found to be a significant risk protein with a p-value of 0.001 and an odds ratio of 1.384 (1.147-1.669), showing pronounced expression in monocytes/macrophages. Furthermore, monocytes/macrophages displayed heightened expression levels of MXD1, AMPD2, TNFSF10, FTL, UBXN11, CSF3R, and LILRA5. The analysis of intercellular signaling revealed increased signal intensity in both incoming and outgoing signals in monocytes/macrophages. The signaling interactions between monocytes/macrophages, B cells, and T cells exhibited varying degrees of deviation.ConclusionsThis study highlights the significant involvement of monocytes/macrophages in the pathogenesis of pSS, as evidenced by MR analysis and scRNA-seq analysis. This suggests monocytes/macrophages as a focal point for pathogenesis research and potential therapeutic targeting in pSS.

01 Sep 2024·Journal of Pediatric Genetics

Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

Article

Author: Akawi, Nadia ; Ali, Bassam R. ; Al-Shamsi, Aisha M. ; Al-Gazali, Lihadh ; Abdelrahman, Hanadi A.

AbstractPontocerebellar hypoplasia type 9 (PCH-9) is a very rare autosomal recessive neurodegenerative disorder. Affected infants present early with severe developmental delay, spasticity, with the unique magnetic resonance imaging picture of thin corpus callosum, atrophied pons, and cerebellum. It is caused by loss of function mutations in the AMPD2 gene, encoding for the adenosine monophosphate deaminase enzyme-paralog 2. This gene is expressed in different somatic tissues with high level of expression in cerebellum and its encoded enzyme catalyzes a critical step in de novo biosynthesis of purines and its deficiency in the developing neurons severely affects neuronal differentiation and cell viability. We clinically evaluated an Emirati patient presented with severe developmental and growth delay, as well as corpus callosum agenesis and atrophy of brainstem and cerebellum. We performed exome sequencing, Sanger sequencing, and segregation analysis to identify the genetic cause of the phenotype, followed by in silico and in vitro analysis. We identified the novel variant (NM_004037.9:c.1471G > A) in AMPD2 gene leading to a single amino acid substitution (p.Gly491Arg) in adenosine monophosphate deaminase-2 enzyme. This variant is predicted to be pathogenic using several in silico tools, and resulted in a decrease in the enzyme function in the patient's polymorphonuclear cells by 82% (95% confidence interval: 73.3–91.7%, p = 0.029) compared with the control. This data establishes that the affected child is affected by PCH-9. Furthermore, we review all reported cases in literature to summarize the main clinical features of this rare disease.

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