中国汉族孤独症儿童发现褪黑素合成酶ASMT基因罕见突变

• 作 者: 王力芳;李俊;阮燕燕;卢天兰;贾美香;岳伟华;刘靖;
• 机 构: 北京大学精神卫生研究所,卫生部精神卫生学重点实验室 北京大学 北京市海淀区花园北路51号,100191
• 出 处: 中国神经科学学会精神病学基础与临床分会第九届学术会议
• 发表日期: 2012年期

　　Objective: Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function.Prior research reported low melatonin levels in autism spectrum disorders (ASD).ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway.A previous study reported an association between single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT and ASD.Furthermore, rare deleterious mutations were identified in a subset of patients.