Akyol Sumeyya, Ashrafi Nadia, Yilmaz Ali, Turkoglu Onur, Graham Stewart F
NX Prenatal Inc., 4350 Brownsboro Road, Louisville KY 40207, USA.
Department of Obstetrics and Gynecology, Oakland University-William Beaumont School of Medicine, 318 Meadow Brook Road, Rochester, MI 48309, USA.
Metabolites. 2023 Dec 18;13(12):1203. doi: 10.3390/metabo13121203.
Huntington's disease (HD) is a progressive, fatal neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. The precise mechanisms of HD progression are poorly understood; however, it is known that there is an expansion of the trinucleotide cytosine-adenine-guanine (CAG) repeat in the Huntingtin gene. Important new strategies are of paramount importance to identify early biomarkers with predictive value for intervening in disease progression at a stage when cellular dysfunction has not progressed irreversibly. Metabolomics is the study of global metabolite profiles in a system (cell, tissue, or organism) under certain conditions and is becoming an essential tool for the systemic characterization of metabolites to provide a snapshot of the functional and pathophysiological states of an organism and support disease diagnosis and biomarker discovery. This review briefly highlights the historical progress of metabolomic methodologies, followed by a more detailed review of the use of metabolomics in HD research to enable a greater understanding of the pathogenesis, its early prediction, and finally the main technical platforms in the field of metabolomics.
亨廷顿舞蹈症（HD）是一种进行性致命神经退行性疾病，其特征为运动、认知和精神症状。HD进展的确切机制尚不清楚；然而，已知亨廷顿基因中的三核苷酸胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复序列会发生扩增。识别具有预测价值的早期生物标志物对于在细胞功能障碍尚未不可逆转地进展的阶段干预疾病进展至关重要。代谢组学是研究在特定条件下系统（细胞、组织或生物体）中的整体代谢物谱，正成为全面表征代谢物的重要工具，以提供生物体功能和病理生理状态的快照，并支持疾病诊断和生物标志物发现。本综述简要强调了代谢组学方法的历史进展，随后更详细地综述了代谢组学在HD研究中的应用，以便更深入地了解其发病机制、早期预测，最后介绍了代谢组学领域的主要技术平台。
