高加索人群认知障碍与线粒体 COII 和赖氨酸 tRNA 基因间 9 个碱基缺失：一项观察性研究。
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study.
机构信息
Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
出版信息
Int J Mol Sci. 2024 Oct 9;25(19):10826. doi: 10.3390/ijms251910826.
The loss of one of the two copies of the 9 bp tandem repeat sequence (CCCCCTCTA) located in the small non-coding region between the cytochrome oxidase II (COII) and the lysine tRNA genes in human mtDNA has been reported to be polymorphic in Asian, Oceanian and Sub-Saharan African populations, but it has rarely been observed in Europe. In this study, we will evaluate the possible association between the MIC9D polymorphism and cognitive disorders. A genetic analysis of unrelated Sicilian patients with cognitive deficits was performed to identify the 9 bp deletion MIC9D polymorphism. The MIC9D polymorphism was found in six patients, whereas this variant was absent in control individuals without cognitive deficits. The patients with the MIC9D polymorphism exhibited more complex clinical presentations; in particular, all had neuromuscular disorders and five also presented with behavioral disorders. The present study suggests a potential association between the MIC9D polymorphism and cognitive impairment with concurrent neuromuscular and behavioral involvement.
已报道位于人类 mtDNA 细胞色素氧化酶 II（COII）和赖氨酸 tRNA 基因之间的小非编码区中的 9 bp 串联重复序列（CCCCCTCTA）的两个拷贝中的一个丢失是多态性的在亚洲、大洋洲和撒哈拉以南非洲人群中，但在欧洲很少观察到。在这项研究中，我们将评估 MIC9D 多态性与认知障碍之间的可能关联。对具有认知缺陷的无关西西里患者进行了遗传分析，以鉴定 9 bp 缺失的 MIC9D 多态性。在六位患者中发现了 MIC9D 多态性，而在没有认知缺陷的对照组个体中则不存在这种变体。具有 MIC9D 多态性的患者表现出更复杂的临床表现；特别是，所有人都有神经肌肉疾病，五人也有行为障碍。本研究提示 MIC9D 多态性与认知障碍伴有神经肌肉和行为受累之间存在潜在关联。
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