Yilmaz Ali, Akyol Sumeyya, Ashrafi Nadia, Saiyed Nazia, Turkoglu Onur, Graham Stewart F
Department of Obstetrics and Gynecology, Oakland University-William Beaumont School of Medicine, Rochester, MI 48309, USA.
Metabolomics Division, Beaumont Research Institute, 3811 W. 13 Mile Road, Royal Oak, MI 48073, USA.
Metabolites. 2025 Jan 2;15(1):10. doi: 10.3390/metabo15010010.
Huntington's disease (HD) is a multifaceted neurological disorder characterized by the progressive deterioration of motor, cognitive, and psychiatric functions. Despite a limited understanding of its pathogenesis, research has implicated abnormal trinucleotide cytosine-adenine-guanine CAG repeat expansion in the huntingtin gene (HTT) as a critical factor. The development of innovative strategies is imperative for the early detection of predictive biomarkers, enabling timely intervention and mitigating irreversible cellular damage. Lipidomics, a comprehensive analytical approach, has emerged as an indispensable tool for systematically characterizing lipid profiles and elucidating their role in disease pathology.
A MedLine search was performed to identify studies that use lipidomics for the characterization of HD. Search terms included "Huntington disease"; "lipidomics"; "biomarker discovery"; "NMR"; and "Mass spectrometry".
This review highlights the significance of lipidomics in HD diagnosis and treatment, exploring changes in brain lipids and their functions. Recent breakthroughs in analytical techniques, particularly mass spectrometry and NMR spectroscopy, have revolutionized brain lipidomics research, enabling researchers to gain deeper insights into the complex lipidome of the brain.
A comprehensive understanding of the broad spectrum of lipidomics alterations in HD is vital for precise diagnostic evaluation and effective disease management. The integration of lipidomics with artificial intelligence and interdisciplinary collaboration holds promise for addressing the clinical variability of HD.
亨廷顿舞蹈病(HD)是一种多方面的神经疾病,其特征为运动、认知和精神功能的进行性衰退。尽管对其发病机制的了解有限,但研究表明亨廷顿蛋白基因(HTT)中异常的三核苷酸胞嘧啶 - 腺嘌呤 - 鸟嘌呤(CAG)重复扩增是一个关键因素。开发创新策略对于早期检测预测性生物标志物、实现及时干预和减轻不可逆的细胞损伤至关重要。脂质组学作为一种全面的分析方法,已成为系统表征脂质谱并阐明其在疾病病理学中作用的不可或缺的工具。
进行了一项医学文献数据库(MedLine)搜索,以确定使用脂质组学来表征HD的研究。搜索词包括“亨廷顿病”;“脂质组学”;“生物标志物发现”;“核磁共振”;和“质谱”。
本综述强调了脂质组学在HD诊断和治疗中的重要性,探讨了脑脂质的变化及其功能。分析技术的最新突破,特别是质谱和核磁共振光谱,彻底改变了脑脂质组学研究,使研究人员能够更深入地了解大脑复杂的脂质组。
全面了解HD中广泛的脂质组学改变对于精确的诊断评估和有效的疾病管理至关重要。将脂质组学与人工智能相结合以及跨学科合作有望解决HD的临床变异性问题。