PHYSICAL & METABOLIC ABNORMALITIES OF LIPODYSTROPHY

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。本研究的目的是研究各种类型的脂肪营养不良患者及其家族成员，确定遗传方式(S)，并确定与脂肪营养不良相关的候选基因。此外，这项研究将通过临床和实验室调查确定脂肪营养不良患者的自然病程。这项研究将试图回答以下具体问题：1)不同形式的脂肪营养不良的遗传模式是否不同？2)不同类型的脂肪营养不良患者的表型变异是什么？亲属是否有临床上不太明显的轻度脂肪营养不良？3)不同类型的脂肪营养不良患者的脂肪组织分布有什么特点？不同类型的脂肪营养不良患者还有其他临床差异吗？4)不同类型的脂肪营养不良中特定解剖部位的脂肪缺失是否会影响葡萄糖和脂肪酸的代谢？5)特定解剖部位的脂肪缺失(或其他部位脂肪过剩)是否会影响脂蛋白脂酶水平，从而影响血浆甘油三酯水平和乳糜粒清除？6)在可遗传形式的脂肪营养不良中，具体的遗传缺陷是什么？

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this investigation is to study patients with various types of lipodystrophies and their family members, to determine the mode(s) of inheritance- and to identify lipodystrophy-related candidate genes. Furthermore, the study will determine the natural course of the disease in patients with lipodystrophies- dystrophies through clinical and laboratory investigations. The study will attempt to answer the following specific questions: 1) Do the inheritance patterns of various forms of lipodystrophy differ? 2) What are the phenotypic variations in patients with various types of lipodystrophies? Do the relatives have milder varieties of lipodystrophy which may not be clinically apparent? 3) What are the peculiarities in the adipose tissue distribution in patients with various types of lipodystrophy? Are there other clinical differences in patients with various types of lipodystrophy? 4) Does the absence of fat from particular anatomical sites in different types of lipodystrophies influence glucose and fatty acid metabolism? 5) Does the absence of fat from particular anatomical site (or excess in other sites) affect lipoprotein lipase levels and thus, plasma triglyceride levels and chylomicron clearance? 6) What are the specific genetic defects in heritable forms of lipodystrophies?