PHYSICAL & METABOLIC ABNORMALITIES OF LIPODYSTROPHY

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。这项研究的目的是研究各种类型的脂肪营养不良患者及其家庭成员，以确定遗传模式-并确定脂肪营养不良相关的候选基因。此外，该研究将通过临床和实验室研究确定脂肪营养不良患者的疾病自然病程。 该研究将试图回答以下具体问题：1）各种形式的脂肪代谢障碍的遗传模式是否不同？2)不同类型脂肪营养不良患者的表型变异是什么？亲属是否有轻度的脂肪代谢障碍，临床上可能不明显？3)不同类型脂肪营养不良患者的脂肪组织分布有何特点？不同类型的脂肪代谢障碍患者是否存在其他临床差异？4)在不同类型的脂肪营养不良中，特定解剖部位脂肪的缺失是否会影响葡萄糖和脂肪酸代谢？5)特定解剖部位缺乏脂肪（或其他部位脂肪过多）是否会影响脂蛋白脂肪酶水平，进而影响血浆甘油三酯水平和乳糜微粒清除率？6)脂肪营养不良的遗传形式有哪些特定的遗传缺陷？

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?