STEROL METABOLISM & DIETARY CHOLESTEROL IN SLO SYNDROME
甾醇代谢
基本信息
- 批准号:6537763
- 负责人:
- 金额:$ 18.88万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2000
- 资助国家:美国
- 起止时间:2000-04-01 至 2005-03-31
- 项目状态:已结题
- 来源:
- 关键词:blood chemistry child (0-11) cholanate compound cholesterol cholesterol ester storage disease clinical research clinical trials congenital disorders developmental nutrition diet therapy dietary lipid enzyme feedback enzyme mechanism gastrointestinal absorption /transport genetic screening human genetic material tag human subject human therapy evaluation micrencephaly molecular genetics nutrition related tag oxidoreductase pediatrics steroid metabolism urinalysis
项目摘要
In Smith-Lemli-Opitz Syndrome (SLOS) cholesterol levels in plasma
and tissue are low, and concentrations of 7-dehyrdocholesterol and other
sterols are high. These other sterols are pathologic and are not normally
present. Patients with SLOS block the synthesis of cholesterol because of a
deficiency in enzyme 7-dehydrocholesterol delta 7-reductase, and it is
7-dehydrocholesterol that converts to cholesterol in the last step of
cholesterol synthesis. The principal investigator (PI) has proposed to feed
dietary cholesterol from three different sources, egg yolk, crystalline
cholesterol and butterfat to SLOS patients. Cholesterol absorption and
synthesis will be determined in both very low cholesterol diets and high
cholesterol diets. Using three different techniques, the PI will measure whole
body cholesterol absorption and synthesis as well as bile acid synthesis in
SLOS patients and in control subjects. The three different techniques include
measuring cholesterol synthesis and absorption and bile acid synthesis by the
sterol balance, determining cholesterol synthesis by measuring the
incorporation of deuterated water into erythrocyte cholesterol, and determining
sterol synthesis in SLOS patients and control subjects by measuring 24-hour
urinary mevalonate excretion. The objective is to fully understand the effects
that 7-dehydrocholesterol delta 7-reductase deficiency has on sterol metabolism
in SLOS. Long-term dietary cholesterol supplementation feeding studies might
produce more definitive results about the effect that 7-dehydrocholesterol
delta 7-reductase deficiency has on sterol metabolism than have short-term
supplementation feeding studies. Once the optimal dose and best source of
dietary cholesterol (egg yolk, crystalline cholesterol or butterfat) is
determined, the diets of SLOS patients will be supplemented for one year or
longer. Biochemical parameters of these patients will be measured during this
time. As a result of these feeding studies, therapies can be devised and
applied to SLOS patients immediately following identification of their
condition. It is the PI's plan to identify mutations in the
7-dehydrocholesterol delta 7-reductase gene in SLOS patients in order to
establish a genotype-phenotype correlation based on dysmorphology and sterol
synthesis. Developmental testing will be performed.
在Smith-Lemli-Opitz综合征(SLOS)中,血浆胆固醇水平
和组织是低的,7-脱氢胆固醇和其他
固醇含量很高。这些其他固醇是病理性的,
礼物SLOS患者阻断胆固醇的合成是因为
缺乏酶7-脱氢胆固醇δ 7-还原酶,
7-脱氢胆固醇,在胆固醇的最后一步转化为胆固醇,
胆固醇合成主要研究者(PI)建议
膳食胆固醇来自三个不同的来源,蛋黄,晶体
胆固醇和乳脂。胆固醇吸收和
合成将在非常低胆固醇饮食和高胆固醇饮食中测定。
胆固醇饮食。使用三种不同的技术,PI将测量整体
体内胆固醇的吸收和合成以及胆汁酸的合成,
SLOS患者和对照受试者。三种不同的技术包括
测定胆固醇的合成和吸收以及胆汁酸的合成
固醇平衡,通过测量
氘代水掺入红细胞胆固醇,
通过测量24小时内SLOS患者和对照受试者中甾醇合成
尿甲羟戊酸排泄。我们的目标是充分了解
7-脱氢胆固醇δ 7-还原酶缺乏对固醇代谢的影响
在SLOS。长期的饮食胆固醇补充喂养研究可能
对7-脱氢胆固醇的作用产生更明确的结果,
δ 7-还原酶缺乏对甾醇代谢的影响比短期缺乏更大
补充喂养研究。一旦最佳剂量和最佳来源
膳食胆固醇(蛋黄,结晶胆固醇或乳脂),
确定后,SLOS患者的饮食将补充一年或
更长.在此期间将测量这些患者的生化参数
时间作为这些喂养研究的结果,可以设计治疗方法,
应用于SLOS患者后,立即确定他们的
条件PI的计划是识别
7-脱氢胆固醇δ 7-还原酶基因,
基于形态异常和甾醇建立基因型-表型相关性
合成.将进行开发测试。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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WILLIAM E CONNOR其他文献
WILLIAM E CONNOR的其他文献
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{{ truncateString('WILLIAM E CONNOR', 18)}}的其他基金
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类胡萝卜素和脂质在年龄相关性黄斑变性中的作用
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7206569 - 财政年份:2005
- 资助金额:
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饮食和药物对 CTX 患者的影响
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6981065 - 财政年份:2003
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Carotenoids and Lipids in Age-Related Macular Degeneration
类胡萝卜素和脂质在年龄相关性黄斑变性中的作用
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6981093 - 财政年份:2003
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LIPID RESPONSIVENESS TO DIETARY FAT IN BLACK WOMEN AND WHITE WOMEN
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6465831 - 财政年份:2000
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- 批准号:
6465852 - 财政年份:2000
- 资助金额:
$ 18.88万 - 项目类别: