CAJ | 학술논문

DNA聚合酶γ是唯一已知位于线粒体参与线粒体DNA复制与修复的酶,其基因突变将影响其合成的线粒体DNA的质量或数量,导致线粒体突变、缺失或者合成的减少.POLG基因突变引起相关疾病包括广泛的互相重叠的各种临床表型,发病年龄可以覆盖从婴儿期到成年.在顽固性癫痫患者中,POLG基因纯合突变或复合杂合突变的频率高达2.3％,这类患者如果使用丙戊酸钠则会诱发急性肝功能衰竭,因此对任何儿童或青少年难治性癫痫伴或不伴癫痫持续状态,尤其是那些出现精神运动倒退的患儿,应当常规筛查POLG基因突变情况,从而避免因丙戊酸钠应用而导致的肝功能衰竭.
DNA취합매γ시유일이지위우선립체삼여선립체DNA복제여수복적매,기기인돌변장영향기합성적선립체DNA적질량혹수량,도치선립체돌변、결실혹자합성적감소.POLG기인돌변인기상관질병포괄엄범적호상중첩적각충림상표형,발병년령가이복개종영인기도성년.재완고성전간환자중,POLG기인순합돌변혹복합잡합돌변적빈솔고체2.3％,저류환자여과사용병무산납칙회유발급성간공능쇠갈,인차대임하인동혹청소년난치성전간반혹불반전간지속상태,우기시나사출현정신운동도퇴적환인,응당상규사사POLG기인돌변정황,종이피면인병무산납응용이도치적간공능쇠갈.
DNA polymerase γis the only known DNA polymerase in human mitochondria,and is essential for mitochondrial DNA replication and repair.DNA polymerase γ is encoded by POLG gene.POLG-related disorders resulted from mutations of POLG gene comprise a continuum of overlapping phenotypes including Alpers Huttenlocher syndrome and other five subtypes, with high prevalence rate at patients with intractable seizure.Genetic testing for POLG mutations in patients with intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations.