Displaying all 2 publications

Abstract:
Sort:
  1. Comparative analyses of the transcriptome among three development stages of Zeugodacus tau larvae (Diptera: Tephritidae)
    Li WJ, Xu CK, Ong SQ, Majid AHA, Wang JG, Li XZ
    Comp Biochem Physiol Part D Genomics Proteomics, 2024 Dec;52:101333.
    PMID: 39326209 DOI: 10.1016/j.cbd.2024.101333
    Studying differences in transcriptomes across various development stages of insects is necessary to uncover the physiological and molecular mechanism underlying development and metamorphosis. We here present the first transcriptome data generated under Illumina Hiseq platform concerning Zeugodacus tau (Walker) larvae from Nanchang, China. In total, 11,702 genes were identified from 9 transcriptome libraries of three development stages of Z. tau larvae. 7219 differentially expressed genes (DEGs) were screened out from the comparisons between each two development stages of Z. tau larvae, and their roles in development and metabolism were analyzed. Comparative analyses of transcriptome data showed that there are 5333 DEGs between 1-day and 7-day old larvae, consisting of 1609 up-regulated and 3724 down-regulated genes. Expressions of DEGs were more abundant in L7 than in L1 and L3, which might be associated with metamorphosis. Gene Ontology (GO) enrichment and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis suggested the enrichment of metabolic process. KOG annotation further confirmed that 20-hydroxyecdysone (20E) pathway related genes Cyp4ac1_1, Cyp4aa1, Cyp313a4_3 were critical for the biosynthesis, transport, and catabolism of secondary metabolites and lipid transport and metabolism. Expression patterns of 8 DEGs were verified using quantitative real-time PCR (RT-qPCR). This study elucidated the DEGs and their roles underlying three development stages of Z. tau larvae, which provided valuable information for further functional genomic research.
  2. Fulltext Diagnosis of an intermediate case of maple syrup urine disease: A case report
    Lin YT, Cai YN, Ting TH, Liu L, Zeng CH, Su L, et al.
    World J Clin Cases, 2023 Feb 16;11(5):1077-1085.
    PMID: 36874425 DOI: 10.12998/wjcc.v11.i5.1077
    BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). However, the clinical and metabolic screening is limited in identifying all MSUD patients, especially those patients with mild phenotypes or are asymptomatic. This study aims to share the diagnostic experience of an intermediate MSUD case who was missed by metabolic profiling but identified by genetic analysis.

    CASE SUMMARY: This study reports the diagnostic process of a boy with intermediate MSUD. The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age. Preliminary clinical and metabolic profiling did not support a specific disease. However, whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene, confirming the proband as having MSUD with non-classic mild phenotypes. His clinical and laboratory data were retrospectively analyzed. According to his disease course, he was classified into an intermediate form of MSUD. His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD. In addition, genetic counseling and prenatal diagnosis were provided to his parents.

    CONCLUSION: Our work provides diagnostic experience of an intermediate MSUD case, suggesting that a genetic analysis is important for ambiguous cases, and alerts clinicians to avoid missing patients with non-classic mild phenotypes of MSUD.

Related Terms
    Try searching for something
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links