Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
Deparment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mol Genet Metab. 2024 May;142(1):108351. doi: 10.1016/j.ymgme.2024.108351. Epub 2024 Feb 23.
Fatty acid oxidation disorders (FAODs) are a family of rare, genetic disorders that affect any part of the fatty acid oxidation pathway. Patients present with severe phenotypes, such as hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis, and currently manage these symptoms by the avoidance of fasting and maintaining a low-fat, high-carbohydrate diet. Because knowledge about FAODs is limited due to the small number of patients, rodent models have been crucial in learning more about these disorders, particularly in studying the molecular mechanisms involved in different phenotypes and in evaluating treatments for patients. The purpose of this review is to present the different FAOD mouse models and highlight the benefits and limitations of using these models. Specifically, we discuss the phenotypes of the available FAOD mouse models, the potential molecular causes of prominent FAOD phenotypes that have been studied using FAOD mouse models, and how FAOD mouse models have been used to evaluate treatments for patients.
脂肪酸氧化障碍（FAOD）是一组罕见的遗传性疾病，影响脂肪酸氧化途径的任何部分。患者表现出严重的表型，如低酮性低血糖、心肌病和横纹肌溶解症，目前通过避免禁食和保持低脂肪、高碳水化合物饮食来控制这些症状。由于 FAOD 患者数量较少，对 FAOD 的了解有限，因此啮齿动物模型在深入了解这些疾病方面至关重要，特别是在研究不同表型所涉及的分子机制以及评估患者治疗方法方面。本文旨在介绍不同的 FAOD 小鼠模型，并强调使用这些模型的优势和局限性。具体来说，我们讨论了现有的 FAOD 小鼠模型的表型、使用 FAOD 小鼠模型研究的突出 FAOD 表型的潜在分子原因，以及 FAOD 小鼠模型如何用于评估患者的治疗方法。
