课题基金 / 基金详情

CLINICAL SYNDROMES ASSOCIATED WITH MTDNA POINT MUTATIONS

CLINICAL SYNDROMES ASSOCIATED WITH MTDNA POINT MUTATIONS
与 MTDNA 点突变相关的临床综合征
批准号：
6220037
负责人：
DARRYL C DE VIVO
金额：
$0.04万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
项目状态：
已结题
起止时间：
1998-12-01 至 1999-11-30
来源：
https://reporter.nih.gov/project-details/6220037
关键词：
behavior disorders behavioral /social science research tag bioenergetics brain metabolism calcium metabolism cerebrum clinical research cognition disorders fibroblasts genetic disorder diagnosis human subject method development mitochondrial DNA nuclear magnetic resonance spectroscopy point mutation tissue /cell culture

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相关文献

中文摘要
翻译
研究mtDNA点突变引起的认知和行为缺陷，并通过核磁共振波谱评价其与脑能量代谢的相关性。我们还将尝试建立基于培养的皮肤成纤维细胞的钙缓冲能力的线粒体疾病患者的敏感筛查试验。
英文摘要
To characterize the cognitive and behavioral deficits associated with mtDNA point mutations and correlate them with cerebral energy metabolism assessed by NMR spectroscopy. We will also attempt to establish a sensitive screening test for patients with Mitrochondrial diseases based on the calcium-buffering capacity of cultlured skin fibroblasts.
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