* Usage of mitochondrial D-loop variation to predict risk for Huntington disease.
- Huntington's disease (HD) is an inherited autosomal neurodegenerative disease caused by the abnormal expansion of the CAG repeats in the Huntingtin (Htt) gene. It has been proven that mitochondrial dysfunction is contributed to the pathogenesis of Huntington's disease. The mitochondrial displacement loop (D-loop) is proven to accumulate mutations at a higher rate than other regions of mtDNA. Thus, we hypothesized that specific SNPs in the D-loop may contribute to the pathogenesis of Huntington's disease. In the present study, 30 patients with Huntington's disease and 463 healthy controls were evaluated for mitochondrial mutation sites within the D-loop region using PCR-sequencing method. Sequence analysis revealed 35 variations in HD group from Cambridge Mitochondrial Sequences. A significant difference (p < 0.05) was seen between patients and control group in eight SNPs. Polymorphisms at C16069T, T16126C, T16189C, T16519C and C16223T were correlated with an increased risk of HD while SNPs at C16150T, T16086C and T16195C were associated with a decreased risk of Huntington's disease.
=>方法, 筋道, 秩序, 規則正しさ, 順序
Overview of noun method
The noun method has 2 senses (first 1 from tagged texts)
1. (95) method -- (a way of doing something, especially a systematic way; implies an orderly logical
arrangement (usually in steps))
2. method acting, method -- (an acting technique introduced by Stanislavsky in which the actor
recalls emotions or reactions from his or her own life and uses them to identify with the character
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PubMed database: last updated on 2022-12-07 (c)sirasawa 2019