Functional effects of polymorphic variation of the aromatase (CYP19) gene on enzyme activity:relationship to disease

芳香酶（CYP19）基因多态性变异对酶活性的功能影响：与疾病的关系

• 批准号: nhmrc : 513724
• 负责人: A/Pr Scott Wilson
• 金额: $ 15.85万
• 依托单位: The University of Western Australia
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2008
• 资助国家: 澳大利亚
• 起止时间: 2008-01-01 至 2011-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/functional-effects-polymorphic-activityrelationship-disease/83069
• 关键词: Functional; effects; polymorphic; variation; aromatase

After menopause, oestrogen synthesis changes from an ovarian to an adipose source by concersion of androgens to estrogens, a process catalyzed by aromatase, the product of the CYP19 gene. We will generate mutants of the CYP19 gene that we have previously found in humans by site-directed mutagenesis and observe the effects of these mutants on aromatase function. This research will help with diagnosis and treatment of breast and other cancers and osteoporosis in humans .

绝经后，雌激素的合成通过雄激素向雌激素的聚集从卵巢转变为脂肪来源，这一过程是由CYP19基因的产物芳香化酶催化的。我们将通过定点突变产生以前在人类中发现的CYP19基因突变，并观察这些突变对芳香酶功能的影响。这项研究将有助于诊断和治疗人类的乳腺癌和其他癌症以及骨质疏松症。