Lipidomics of Huntington's Disease: A Comprehensive Review of Current Status and Future Directions.

IF 3.7 3区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Metabolites Pub Date : 2025-01-02 DOI:10.3390/metabo15010010
Ali Yilmaz, Sumeyya Akyol, Nadia Ashrafi, Nazia Saiyed, Onur Turkoglu, Stewart F Graham
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Abstract

Background: 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.

Method: 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".

Results: 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.

Conclusions: 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.

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亨廷顿氏病的脂质组学:现状和未来方向的综合综述。
背景:亨廷顿舞蹈病(HD)是一种以运动、认知和精神功能进行性恶化为特征的多方面神经系统疾病。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。创新策略的发展对于早期检测预测性生物标志物,及时干预和减轻不可逆的细胞损伤至关重要。脂质组学是一种综合性的分析方法,已成为系统表征脂质谱并阐明其在疾病病理学中的作用的不可或缺的工具。方法:进行MedLine搜索,以确定使用脂质组学表征HD的研究。搜索词包括“亨廷顿病”;“lipidomics”;“生物标志物的发现”;“核磁共振”;和“质谱法”。结果:本文综述了脂质组学在HD诊断和治疗中的重要意义,探讨了脑脂质的变化及其功能。最近分析技术的突破,特别是质谱和核磁共振波谱,已经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。结论: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。脂质组学与人工智能和跨学科合作的整合为解决HD的临床变异性带来了希望。
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来源期刊
Metabolites
Metabolites Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
5.70
自引率
7.30%
发文量
1070
审稿时长
17.17 days
期刊介绍: Metabolites (ISSN 2218-1989) is an international, peer-reviewed open access journal of metabolism and metabolomics. Metabolites publishes original research articles and review articles in all molecular aspects of metabolism relevant to the fields of metabolomics, metabolic biochemistry, computational and systems biology, biotechnology and medicine, with a particular focus on the biological roles of metabolites and small molecule biomarkers. Metabolites encourages scientists to publish their experimental and theoretical results in as much detail as possible. Therefore, there is no restriction on article length. Sufficient experimental details must be provided to enable the results to be accurately reproduced. Electronic material representing additional figures, materials and methods explanation, or supporting results and evidence can be submitted with the main manuscript as supplementary material.
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