线粒体插入-缺失多态性：在疾病病理学中的作用。
Mitochondrial insertion-deletion polymorphism: role in disease pathology.
作者信息
Komandur Sreelatha, Venkatasubramanian Sambasivan, Alluri Ravindra Varma, Rao Pragna, Rao Prabhakar, Hasan Qurratulain
机构信息
Department of Genetics and Molecular Medicine, Kamineni Hospitals, L.B Nagar, Hyderabad, India.
出版信息
Genet Test Mol Biomarkers. 2011 May;15(5):361-4. doi: 10.1089/gtmb.2010.0205. Epub 2011 Apr 10.
AIM
Mitochondrial DNA (mtDNA) sequence variations are associated with a number of human diseases. The 9-bp repeat sequence, CCCCCTCTA, in the intergenic region of MTCO2 and MTTK genes of the mtDNA has been extensively used in phylogenic studies. The sequence has been reported to be polymorphic in south-east Asians in isolated cases of mt diseases. This is the first systemic study identifying the role of insertion-deletion polymorphism in human disease.
RESULTS
A total of 241 patients including those with cardiomyopathy, ataxias, and idiopathic neurological disorders along with 100 controls were screened; 2.9% of patients showed a single repeat (deletion) and 4.14% had three repeats (insertion), whereas all the controls had two repeats (normal).
CONCLUSION
This indicates that the 9-bp insertion-deletion repeat polymorphism plays a role in disease pathology, affecting the expression of the downstream genes of mtDNA and altering ATP generation.
目的
线粒体DNA（mtDNA）序列变异与多种人类疾病相关。mtDNA的MTCO2和MTTK基因基因间区域中的9碱基重复序列CCCCCTCTA已广泛用于系统发育研究。据报道，在孤立的线粒体疾病病例中，该序列在东南亚人群中具有多态性。这是第一项确定插入缺失多态性在人类疾病中作用的系统性研究。
结果
共筛查了241例患者，包括患有心肌病、共济失调和特发性神经疾病的患者以及100名对照；2.9%的患者显示单个重复（缺失），4.14%的患者有三个重复（插入），而所有对照均有两个重复（正常）。
结论
这表明9碱基插入缺失重复多态性在疾病病理过程中起作用，影响mtDNA下游基因的表达并改变ATP生成。
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