BACKGROUND: Mutations of the CPT II gene cause CPT II deficiency, an inborn metabolic error affecting mitochondrial fatty acid β-oxidation. Associations and mechanisms of CPT II gene with acute encephalitis need to be elucidated. We aimed to investigate the associations of CPT II gene variants and CPT II activity with development of acute encephalitis. METHODS: A total of 440 blood-unrelated Chinese children with acute encephalitis and 229 healthy controls were enrolled in this case control study. Sequencing of 5 exons of the CPT II gene was carried out to look for the variants associated with acute encephalitis. CPT II activity and blood adenosine triphosphate concentration were examined during high fever and convalescent phase to confirm the hypothesis. RESULTS: Polymorphism of rs2229291 in CPT II gene was significantly associated with an increased risk of acute encephalitis (P = 0.031), where as rs1799821 displayed a decrease risk (P = 0.018). Positive association was found between rs2229291 and patients with fever at onset of seizure and degree of pathogenetic condition (P = 0.018 and P = 0.023), but not for rs1799821. CPT II activity of patients with rs2229291 reduced greatly during high fever compared with the convalescent phase. CONCLUSIONS: rs2229291 and rs1799821 variants in CPT II gene might be 1 of the predisposing factors of acute encephalitis.
BACKGROUND: Mutations of the CPT II gene cause CPT II deficiency, an inborn metabolic error affecting mitochondrial fatty acid β-oxidation. Associations and mechanisms of CPT II gene with acute encephalitis need to be elucidated. We aimed to investigate the associations of CPT II gene variants and CPT II activity with development of acute encephalitis. METHODS: A total of 440 blood-unrelated Chinese children with acute encephalitis and 229 healthy controls were enrolled in this case control study. Sequencing of 5 exons of the CPT II gene was carried out to look for the variants associated with acute encephalitis. CPT II activity and blood adenosine triphosphate concentration were examined during high fever and convalescent phase to confirm the hypothesis. RESULTS: Polymorphism of rs2229291 in CPT II gene was significantly associated with an increased risk of acute encephalitis (P = 0.031), where as rs1799821 displayed a decrease risk (P = 0.018). Positive association was found between rs2229291 and patients with fever at onset of seizure and degree of pathogenetic condition (P = 0.018 and P = 0.023), but not for rs1799821. CPT II activity of patients with rs2229291 reduced greatly during high fever compared with the convalescent phase. CONCLUSIONS:rs2229291 and rs1799821 variants in CPT II gene might be 1 of the predisposing factors of acute encephalitis.
Authors: Jennifer M Puck; Steven E Brenner; Aashish N Adhikari; Renata C Gallagher; Yaqiong Wang; Robert J Currier; George Amatuni; Laia Bassaganyas; Flavia Chen; Kunal Kundu; Mark Kvale; Sean D Mooney; Robert L Nussbaum; Savanna S Randi; Jeremy Sanford; Joseph T Shieh; Rajgopal Srinivasan; Uma Sunderam; Hao Tang; Dedeepya Vaka; Yangyun Zou; Barbara A Koenig; Pui-Yan Kwok; Neil Risch Journal: Nat Med Date: 2020-08-10 Impact factor: 53.440