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Updated: Apr 5, 2026
Antibody-Free Assay for RNA Methyltransferase Activity Analysis
Published on: July 9, 2019
Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology
Lianshu Han1, Shengnan Wu1, Feng Han1
1Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine Shanghai 200092, China.
Methylmalonic acidemia (MMA) causes neuron damage by altering cell morphology and viability. The study identifies MAPK and p53 signaling pathways as potentially involved in MMA pathogenesis.
Area of Science:
- Neuroscience
- Metabolic Disorders
- Genetics
Background:
- Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder.
- MMA leads to methylmalonic acid accumulation and potential brain damage.
Purpose of the Study:
- Investigate the impact of methylmalonic acid on neurons.
- Analyze gene expression changes in rat cortical neurons exposed to methylmalonic acid.
Main Methods:
- Treatment of rat cortical neurons with methylmalonic acid.
- Microarray analysis to identify differentially expressed genes.
- Enrichment analysis of apoptosis-related genes.
Main Results:
- High methylmalonic acid concentrations altered neuron morphology, reduced cell viability, and increased apoptosis.
- 564 differentially expressed genes were identified, many related to apoptosis.
- MAPK and p53 signaling pathways were implicated in MMA pathogenesis.
Conclusions:
- Methylmalonic acid plays a significant role in neuronal damage.
- MAPK and p53 signaling pathways are potentially involved in the mechanism of MMA.
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