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从稀缺到解决方案:治疗策略以恢复罕见脂肪营养不良症中脂肪组织功能。

From scarcity to solutions: Therapeutic strategies to restore adipose tissue functionality in rare disorders of lipodystrophy.

机构信息

The Rowett Institute, University of Aberdeen, Aberdeen, UK.

Aberdeen Cardiovascular and Diabetes Centre, University of Aberdeen, Aberdeen, UK.

出版信息

Diabet Med. 2023 Dec;40(12):e15214. doi: 10.1111/dme.15214. Epub 2023 Sep 3.

DOI:10.1111/dme.15214
PMID:37638531
Abstract

AIMS

Lipodystrophy is a rare disorder characterised by abnormal or deficient adipose tissue formation and distribution. It poses significant challenges to affected individuals, including the development of severe metabolic complications like diabetes and fatty liver disease. These conditions are often chronic, debilitating and life-threatening, with limited treatment options and a lack of specialised expertise. This review aims to raise awareness of lipodystrophy disorders and highlights therapeutic strategies to restore adipose tissue functionality.

METHODS

Extensive research has been conducted, including both historical and recent advances. We have examined and summarised the literature to provide an overview of potential strategies to restore adipose tissue functionality and treat/reverse metabolic complications in lipodystrophy disorders.

RESULTS

A wealth of basic and clinical research has investigated various therapeutic approaches for lipodystrophy. These include ground-breaking methods such as adipose tissue transplantation, innovative leptin replacement therapy, targeted inhibition of lipolysis and cutting-edge gene and cell therapies. Each approach shows great potential in addressing the complex challenges posed by lipodystrophy.

CONCLUSIONS

Lipodystrophy disorders require urgent attention and innovative treatments. Through rigorous basic and clinical research, several promising therapeutic strategies have emerged that could restore adipose tissue functionality and reverse the severe metabolic complications associated with this condition. However, further research and collaboration between academics, clinicians, patient advocacy groups and pharmaceutical companies will be crucial in transforming these scientific breakthroughs into effective and viable treatment options for individuals and families affected by lipodystrophy. Fostering such interdisciplinary partnerships could pave the way for a brighter future for those battling this debilitating disorder.

摘要

目的

脂肪营养不良是一种罕见的疾病,其特征是异常或缺乏脂肪组织的形成和分布。它给受影响的个体带来了重大挑战,包括发展严重的代谢并发症,如糖尿病和脂肪肝疾病。这些情况通常是慢性的、使人衰弱的和危及生命的,治疗选择有限,缺乏专门的专业知识。本综述旨在提高对脂肪营养不良疾病的认识,并强调恢复脂肪组织功能的治疗策略。

方法

进行了广泛的研究,包括历史和最新进展。我们检查并总结了文献,提供了恢复脂肪组织功能和治疗/逆转脂肪营养不良代谢并发症的潜在策略概述。

结果

大量的基础和临床研究调查了脂肪营养不良的各种治疗方法。这些方法包括开创性的脂肪组织移植、创新的瘦素替代疗法、靶向抑制脂肪分解以及前沿的基因和细胞疗法。每种方法都在解决脂肪营养不良带来的复杂挑战方面显示出巨大的潜力。

结论

脂肪营养不良疾病需要紧急关注和创新的治疗方法。通过严格的基础和临床研究,已经出现了几种有前途的治疗策略,可以恢复脂肪组织功能并逆转与这种情况相关的严重代谢并发症。然而,学者、临床医生、患者权益团体和制药公司之间进一步的研究和合作将是将这些科学突破转化为脂肪营养不良患者有效可行的治疗选择的关键。促进这种跨学科的合作关系可能为那些与这种使人衰弱的疾病作斗争的人开辟更美好的未来。

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From scarcity to solutions: Therapeutic strategies to restore adipose tissue functionality in rare disorders of lipodystrophy.从稀缺到解决方案:治疗策略以恢复罕见脂肪营养不良症中脂肪组织功能。
Diabet Med. 2023 Dec;40(12):e15214. doi: 10.1111/dme.15214. Epub 2023 Sep 3.
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Gene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy.基因疗法可恢复脂肪营养不良临床前小鼠模型中的脂肪组织和代谢健康。
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引用本文的文献

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Preclinical evaluation of tissue-selective gene therapies for congenital generalised lipodystrophy.先天性全身性脂肪营养不良的组织选择性基因治疗的临床前评估。
Gene Ther. 2024 Sep;31(9-10):445-454. doi: 10.1038/s41434-024-00471-z. Epub 2024 Jul 28.