追踪先天性代谢错误中的脂质体

IF 3.9 2区生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Biochimica et biophysica acta. Molecular and cell biology of lipids Pub Date : 2024-03-31 DOI:10.1016/j.bbalip.2024.159491

Martina Zandl-Lang

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引用次数: 0

摘要

先天性代谢错误（IEM）是一个由 1800 多种罕见疾病组成的异质性群体，其中许多疾病都会导致严重的儿童发病率和死亡率。有 100 多种先天性代谢异常与血脂异常有关，但我们将遗传信息与脂质体数据联系起来的知识却很有限。对脂质代谢（STL）进行稳定同位素追踪研究，可深入了解细胞脂质过程的动态，从而有助于确定潜在的代谢（病理）机制。这篇微型综述将重点介绍稳定同位素示踪研究的原理和技术局限性，并通过讨论最近发表的以 IEM 为重点的稳定同位素示踪研究介绍其潜在的临床应用。

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Tracing the lipidome in inborn errors of metabolism

Inborn errors of metabolism (IEM) represent a heterogeneous group of more than 1800 rare disorders, many of which are causing significant childhood morbidity and mortality. More than 100 IEM are linked to dyslipidaemia, but yet our knowledge in connecting genetic information with lipidomic data is limited. Stable isotope tracing studies of the lipid metabolism (STL) provide insights on the dynamic of cellular lipid processes and could thereby facilitate the delineation of underlying metabolic (patho)mechanisms. This mini-review focuses on principles as well as technical limitations of STL and describes potential clinical applications by discussing recently published STL focusing on IEM.

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来源期刊

Biochimica et biophysica acta. Molecular and cell biology of lipids 生物-生化与分子生物学

CiteScore

11.00

自引率

2.10%

发文量

109

审稿时长

53 days

期刊介绍： BBA Molecular and Cell Biology of Lipids publishes papers on original research dealing with novel aspects of molecular genetics related to the lipidome, the biosynthesis of lipids, the role of lipids in cells and whole organisms, the regulation of lipid metabolism and function, and lipidomics in all organisms. Manuscripts should significantly advance the understanding of the molecular mechanisms underlying biological processes in which lipids are involved. Papers detailing novel methodology must report significant biochemical, molecular, or functional insight in the area of lipids.