3P-38 PDF
先天性筋ジストロフィーモデルrmdマウスのマルチオミックス解析
Congenital muscular dystrophy (CMD) is a group of inherited genetic disorders with muscle weakness and hypotonia as representive symptoms in early infancy. Recently we reported a new type of CMD, characterized by mitochondrial disorder. Biological analysis of this disease has shown that Choline Kinase ß (CHKB), the first enzyme of the biosynthetic pathway of phosphatidylcholine (PC), the most abundant phospholipid in mammals, is responsible.
The aim of this research is what kind of effect on lipid metabolism by CHKB deletion and PC decrease, based on the comparison between control and rostral-to-caudal muscular dystrophy (rmd) mice with abnormalities of CHKB and mitochondrial disorders. We conducted a metabolic variability analysis of the quadriceps muscles from hindlimb and forelimb using transcriptomics (microarray analysis) and metabolomics (LC-MS and CE-MS analyses). As a result, CHKB deletion in hindlimb muscles may have significant effects on phospholipid distribution of cell membrane and fatty acid metabolism by some types of phospholipase A2, and it might result in inflammation of the hindlimb muscles and lead to the muscular dystrophy.