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
研究线粒体DNA点突变相关的认知和行为缺陷，并将其与核磁共振波谱评估的脑能量代谢相关联。 我们也将尝试建立一个敏感的筛选试验，用于二尖瓣疾病患者的基础上培养的皮肤成纤维细胞的钙缓冲能力。
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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