Lipodystrophy syndromes are conditions in which the adipose tissue mass of an individual is altered inappropriately. The change in adipose mass can range from a relatively modest and subtle redistribution in some individuals with partial lipodystrophy to a near-complete absence of adipose tissue in the most severe forms of generalized lipodystrophy. The common feature is a disconnection between the need of the individual for a safe, healthy lipid storage capacity and the available adipose mass to perform this critical role. The inability to partition lipids for storage in appropriately functioning adipocytes leads to lipid accumulation in other tissues, which typically results in conditions such as diabetes, dyslipidemia, fatty liver, and cardiovascular disease. Several genes have been identified whose disruption leads to inherited forms of lipodystrophy. There is a link between some of these genes and adipose dysfunction, so the molecular basis of disease pathophysiology appears clear. However, for other lipodystrophy genes, it is not evident why their disruption should affect adipose development or function or, in the case of partial lipodystrophy, why only some adipose depots should be affected. Elucidating the molecular functions of these genes and their cellular and physiological effects has the capacity to uncover fundamental new insights regarding the development and functions of adipose tissue. This information is also likely to inform better management of lipodystrophy and improved treatments for patients. In addition, the findings will often be relevant to other conditions featuring adipose tissue dysfunction, including the more common metabolic disease associated with obesity.

中文翻译：

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当脂肪组织让你失望时：了解脂肪营养不良中受损基因的功能

脂肪营养不良综合征是个体脂肪组织质量发生不当改变的病症。脂肪量的变化范围可以从一些患有部分脂肪营养不良的个体中相对适度和微妙的重新分布到在最严重形式的全身性脂肪营养不良中几乎完全没有脂肪组织。共同的特征是个人对安全、健康的脂质储存能力的需求与发挥这一关键作用的可用脂肪量之间的脱节。无法分配脂质以存储在适当功能的脂肪细胞中会导致脂质在其他组织中积累，这通常会导致糖尿病、血脂异常、脂肪肝和心血管疾病等疾病。已鉴定出几种基因，其破坏会导致遗传性脂肪营养不良。其中一些基因与脂肪功能障碍之间存在联系，因此疾病病理生理学的分子基础似乎很清楚。然而，对于其他脂肪营养不良基因，尚不清楚为什么它们的破坏会影响脂肪发育或功能，或者在部分脂肪营养不良的情况下，为什么只有一些脂肪库会受到影响。阐明这些基因的分子功能及其细胞和生理效应有能力揭示有关脂肪组织发育和功能的基本新见解。这些信息也可能为更好地管理脂肪营养不良和改善患者的治疗提供信息。此外，这些发现通常与其他以脂肪组织功能障碍为特征的疾病相关，包括与肥胖相关的更常见的代谢疾病。