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자료유형
학술저널
저자정보
김동희 (부산대학교) 김정안 (부산대학교) 윤다혜 (부산대학교) 김석만 (부산대학교) 김희수 (부산대학교)
저널정보
한국유전학회 Genes & Genomics Genes & Genomics Vol.39 No.3
발행연도
2017.1
수록면
295 - 300 (6page)

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Alzheimer’s disease (AD) is characterized by cognitive impairment, progressive neurodegeneration, and Ab accumulation. Ab oligomers can lead to synaptic damage via alterations in glutamate receptors and excitotoxicity, as well as mitochondrial dysfunction. AD is associated with various biological indicators, including (1) predisposing factors such as genetic risk factors, (2) laboratory markers such as Ab and tau protein, and (3) diagnostic markers such as MRI and PET findings. However, these markers are not confirmed, invasive, or expensive. In the present study, we employed nuclear magnetic resonance (NMR) methods that are inexpensive, time-efficient, and can be performed using samples obtained from various easily accessible sources such as cerebrospinal fluid, plasma, and peripheral tissue, thus highlighting the clinical utility of this approach. NMR analyses of blood metabolites showed that glutamine, glutamate, leucine, oxaloacetate, aspartate, isoleucine, and 3-hydroxyisovalerate are increased in patients with AD compared with control individuals. These metabolites seem to be related to mitochondrial dysfunction. Our data indicated that 3-hydroxyisovalerate, which is linked to known pathologic processes associated with mitochondrial dysfunction and accelerated neurodegeneration, was increased in the blood samples of patients with AD.

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