生理科学进展
生理科學進展
생이과학진전
PROGRESS IN PHYSIOLOGICAL SCIENCES
2014年
3期
185-189
,共5页
孤独症%新发突变%染色体结构域解旋酶DNA结合蛋白8
孤獨癥%新髮突變%染色體結構域解鏇酶DNA結閤蛋白8
고독증%신발돌변%염색체결구역해선매DNA결합단백8
Autism%de novo mutation%CHD8
孤独症（即自闭症谱系障碍）是最常见的儿童中枢神经系统发育紊乱疾病。目前尚无特效治疗药物。最新的突破性进展是通过外显子组测序发现了一批与孤独症相关的单基因新发突变（de novo mutation）。在筛查到的众多孤独症相关新突变基因中，染色体结构域解旋酶DNA结合蛋白8（chromodomain helicase DNA-binding protein 8，CHD8）突变频率最高，是一个重要的孤独症候选致病基因。CHD8与p53、β-catenin等转录因子结合，具有复杂的转录调控作用。孤独症致病基因的发现为孤独症的诊断和治疗提供了分子靶标。
孤獨癥（即自閉癥譜繫障礙）是最常見的兒童中樞神經繫統髮育紊亂疾病。目前尚無特效治療藥物。最新的突破性進展是通過外顯子組測序髮現瞭一批與孤獨癥相關的單基因新髮突變（de novo mutation）。在篩查到的衆多孤獨癥相關新突變基因中，染色體結構域解鏇酶DNA結閤蛋白8（chromodomain helicase DNA-binding protein 8，CHD8）突變頻率最高，是一箇重要的孤獨癥候選緻病基因。CHD8與p53、β-catenin等轉錄因子結閤，具有複雜的轉錄調控作用。孤獨癥緻病基因的髮現為孤獨癥的診斷和治療提供瞭分子靶標。
고독증（즉자폐증보계장애）시최상견적인동중추신경계통발육문란질병。목전상무특효치료약물。최신적돌파성진전시통과외현자조측서발현료일비여고독증상관적단기인신발돌변（de novo mutation）。재사사도적음다고독증상관신돌변기인중，염색체결구역해선매DNA결합단백8（chromodomain helicase DNA-binding protein 8，CHD8）돌변빈솔최고，시일개중요적고독증후선치병기인。CHD8여p53、β-catenin등전록인자결합，구유복잡적전록조공작용。고독증치병기인적발현위고독증적진단화치료제공료분자파표。
Autism or autism spectrum disorders is the most common central nervous system developmen-tal disorder in children.Until now,there is still no effective drug for autism.The latest breakthrough ad-vance in autism study is the discovery of autism-related gene de novo mutation by the whole exon sequen-cing.Among multiple de novo gene mutations identified in autism,the chromodomain helicase DNA-binding protein 8 (CHD8)is the most frequently mutated gene,suggesting that CHD8 is an important candidate gene for autism.CHD8 binds to various other proteins such as p53 and β-catenin to regulate gene expression.The discovery of autism-candidate genes provides novel molecular targets for the diagno-sis and treatment of autism.
