Microarray Analysis Of Pompe Disease

Pompe disease also named as acid maltase deficiency (AMD) or glycogen storage disorder (GSD), glycogenosis II, is one of rare diseases. It is caused by the mutations at the17chromosome, which results in the body lacks of the acid a-glucosidase enzymes and incapability of glycogen degradation. It causes muscle weakness and cardiac expand etiology. It can be divided into two kinds of baby-type and late-onset. The newborn child who had this disease, usually live only1to2years old. However, the molecular mechanisms of genetic research on this disease have still not been perfectly and systematicly studied. Our study here is based on the gene expression profiles of public database GEO (Gene Expression Omnibus) on the morbidity of patients with Pompe disease in infants. By using the software of R and Bioconductor packages with the statistical method of unpaired t test and Benjamini-Hochberg multiple testing, we have finally identified6264genes significantly associated with Pompe disease in infants with p values less than0.01and drawn the scatter heatmap as well as line diagrams of significant genes expression values in each sample in order to character related genes to this complex disease. We have also constructed the candidate genes database associated with Pompe disease. Next, we performed pathway and Gene ontology analysis using Fisher exact test in the combination with the databases of KEGG and DAVID in order to mine the significantly related pathways and GO terms involved in Pompe disease. As a result, we have identified3up-regulated pathways containing918genes, including Lysosome (hsa04142), p53signaling pathway (hsa04115) and ECM-receptor interaction (hsa04512) as well as4sown-regulated pathways containing759genes, including Calcium signaling pathway (hsa04020), Valine, leucine and isoleucine degradation (hsa00280), Circadian rhythm (hsa04710) and Parkinson’s disease (hsa05012). Additionally, we have identified4down-regulated GO biological process terms, including GO:0044237-cellular metabolic process, GO:0009056-catabolic process, GO:0044238-primary metabolic process and GO:0043170-macromolecule metabolic process as well as7up-regulated terms, including GO:0042221-response to chemical stimulus, GO:0048856-anatomical structure development, GO:0048518-positive regulation of biological process, GO:0048869-cellular developmental process, GO:0048522-positive regulation of cellular process, GO:0008219-cell death and GO:0007155-cell adhesion. These molecular genetics information will be reliable resources and may be helpful for our further study of infantile Pompe disease and to eventually investigate the regulatory mechanisms of infantile Pompe disease.