首页>
外国专利>
MUTATIONS IN HUMAN GLUTAMATE CARBOXYPEPTIDASE II GENE IMPACTING FOLATE METABOLISM, AND DETECTION OF AFFECTED INDIVIDUALS
MUTATIONS IN HUMAN GLUTAMATE CARBOXYPEPTIDASE II GENE IMPACTING FOLATE METABOLISM, AND DETECTION OF AFFECTED INDIVIDUALS
展开▼
机译:人谷氨酸羧肽酶II基因突变影响叶酸代谢,检测个体
展开▼
页面导航
摘要
著录项
相似文献
摘要
The invention provides methods for detecting mutations in the human GCPII gene which affect the ability of an individual to hydrolyze terminal glutamates from dietary folates. Such individuals are at increased risk for conditions associated with hyperhomocyteinemia, in particular, cardiovascular disease, colon cancer, and altered cognition in the elderly, including Alzheimer's disease. In addition, pregnant women with low folate status are at increased risk of bearing children with neural tube defects and congenital heart defects. Individuals with these mutations can be screened and treated with supplementation of their diet with folic acid.
展开▼