摘要
脆性X智力障碍1号基因(FMR1)与卵巢功能的相关性得到越来越多的关注,其前突变与早发性卵巢功能不全(POI)明确相关,但POI患者中FMR1前突变携带率存在人种差异,两者的相关性在西方国家人群中尤为明显,在亚洲人群中的研究受到质疑。我国POI患者前突变的发生率稍高于健康女性,前突变可能与卵巢储备功能下降有关。FMR1前突变导致脆性X相关的POI相关机制主要与mRNA毒性有关,高浓度mRNA干扰卵泡发育,对颗粒细胞呈现毒性作用。未来开展卵巢功能下降患者的FMR1基因筛查可为其提供生育指导,具有临床应用价值。
An increasing attention has been paid to the relationship between fragile X mental retardation 1(FMR1)gene and the ovarian function.FMR1 premutations are clearly associated with premature ovarian insufficiency(POI).However,there are ethnic differences in the prevalence of FMR1 premutation in patients with POI.In western countries,POI is more significantly associated with FMR1 premutation,while the similar studies in Asian populations are challenged.The incidence of premutation in patients with POI is slightly higher than that of healthy women in China.The FMR1 premutation is also likely to be associated with diminished ovarian reserve.There have been some studies on the mechanisms of fragile-X-associated POI caused by FMR1 premutation,which is mainly related to the toxicity of mRNA.High concentration of mRNA interferes with follicular development and shows toxicity to granulosa cells.In the future,FMR1 gene screening for patients with decreased ovarian function can provide fertility guidance and has clinical application value.
作者
唐瑞怡
郁琦
TANG Ruiyi;YU Qi(Department of Obstetrics and Gynecology,National Clinical Research Center for Obstetric&Gynecologic Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《医学综述》
CAS
2021年第15期2917-2923,共7页
Medical Recapitulate
基金
国家重点研发计划(2018YFC1002105)
中国医学科学院医学与健康科技创新工程(2017-I2M-1-002)。
