CAJ | 학술논문

马查多-约瑟夫病(Machado-Joseph disease,MJD)也被称为脊髓小脑性共济失调3型(spinocerebellarataxia 3,SCA3),是最常见的遗传性脊髓小脑性共济失调亚型.发病机制尚不清楚,复杂的病情一直是临床工作者极大的挑战.得益于分子细胞遗传学迅猛发展,MJD症状前诊断及基因诊断成为现实并还在继续向前发展.逐步用于疾病诊断、鉴别诊断及治疗中,同时为遗传咨询提供科学依据.为寻求新突破,该文集中总结该疾病ATXN3突变致病机制及基因检测应用研究现状.更好地理解这些复杂的分子机制,探讨基因检测以及新基因突变位点的发现对这一致命性疾病的诊断及治疗意义.
마사다-약슬부병(Machado-Joseph disease,MJD)야피칭위척수소뇌성공제실조3형(spinocerebellarataxia 3,SCA3),시최상견적유전성척수소뇌성공제실조아형.발병궤제상불청초,복잡적병정일직시림상공작자겁대적도전.득익우분자세포유전학신맹발전,MJD증상전진단급기인진단성위현실병환재계속향전발전.축보용우질병진단、감별진단급치료중,동시위유전자순제공과학의거.위심구신돌파,해문집중총결해질병ATXN3돌변치병궤제급기인검측응용연구현상.경호지리해저사복잡적분자궤제,탐토기인검측이급신기인돌변위점적발현대저일치명성질병적진단급치료의의.
Machado-Joseph disease (MJD),also known as spinocerebellar ataxia type 3 (SCA3),is the most common subtype of inherited spinocerebellar ataxia.The mechanism of MJD has not been very clear and the complex condition has always been a great challenge for clinical workers.Presymptomatic diagnosis and gene diagnosis of MJD have become reality profit from the rapid development of molecular cytogenetics and its continuing to move forward.This has gradually been successfully applied to the the clinical diagnosis,differential diagnosis and treatment of the disease,to provide the scientific basis for genetic counseling at the same time.To seek new breakthrough,we will summarizes the mutation mechanism of ATXN3 and the status of application of gene detection in the article.To explore the significance of gene detection and the discovery of new gene mutation,related to diagnosis and treatment,for this deadly disease through a better understanding of those complex molecular mechanisms.