Lack of adipose tissue, either complete or partial, is the hallmark of disorders known as lipodystrophies. Patients with lipodystrophies suffer from metabolic complications similar to those associated with obesity, including insulin resistance, type 2 diabetes, hypertriglyceridemia, and hepatic steatosis. The loss of body fat in inherited lipodystrophies can be caused by defects in the development and/or differentiation of adipose tissue as a consequence of mutations in a number of genes, including PPARG (encoding a nuclear hormone receptor), AGPAT2 (encoding an enzyme involved in the biosynthesis of triglyceride and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear). The loss of body fat can also be caused by the premature death of adipocytes due to mutations in lamin A/C, nuclear lamina proteins, and ZMPSTE24, which modifies the prelamin A post-translationally. In this review, we focus on the molecular basis of inherited lipodystrophies as they relate to adipocyte biology and their associated phenotypic manifestations.

中文翻译：

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脂肪组织发育，分化和死亡的遗传性疾病。

缺乏脂肪组织，无论是完整的还是局部的，都是脂肪营养不良症的标志。脂肪营养不良的患者患有与肥胖相关的代谢并发症，包括胰岛素抵抗，2型糖尿病，高甘油三酯血症和肝脂肪变性。由于多种基因的突变，包括PPARG（编码一种核激素受体），AGPAT2（编码一种涉及的酶）的突变，导致脂肪组织发育和/或分化的缺陷可能导致遗传性脂肪营养不良的体内脂肪损失。在甘油三酸酯和磷脂的生物合成中，AKT2（编码参与胰岛素信号转导的蛋白质）和BSCL2（编码seipin，其在脂肪细胞生物学中的作用尚不清楚）。人体脂肪的损失也可能是由于层粘连蛋白A / C，核纤层蛋白和ZMPSTE24的突变导致脂肪细胞过早死亡而引起的，ZMPSTE24在翻译后修饰了纤溶酶A。在这篇综述中，我们重点研究遗传性脂肪营养不良的分子基础，因为它们与脂肪细胞生物学及其相关的表型表现有关。