MOLECULAR BASIS OF JUVENILE NCL
幼体 NCL 的分子基础
基本信息
- 批准号:2270077
- 负责人:
- 金额:$ 23.85万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:1993
- 资助国家:美国
- 起止时间:1993-08-01 至 1996-07-31
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
The long-term objective of this research is to understand the molecular
basis of the neuronal ceroid lipofuscinoses (NCL; Batten Disease). NCL
is the most common neurodegenerative disorder of childhood and is
characterized the progressive mental deterioration, seizures, and vision
loss. The hallmark of the disease is the accumulation of autofluorescent
lipopigments in ultrastructural cytosomes in neurons and other tissues.
Four major subtypes are now recognized on the basis of age of onset,
clinical presentation, and ultrastructural morphology: infantile (INCL),
found exclusively in Finland; late infantile (LNCL); juvenile (JNCL); and
adult (Kufs disease). With the possible exception of the adult form,
inheritance is autosomal recessive. The incidence of NCL is estimated
at 1-5/100,000. Despite intensive effort, the basic biochemical defect
in NCL continues to elude researchers. There is no effective treatment
for this fatal disease.
The specific aim of this proposal is clone and characterize the gene for
the juvenile form of NCL, CLN3. CLN3 has now been localized by genetic
linkage with highly informative microsatellite markers to 16p12.1. It
is proposed to refine the localization of CLN3 by more extensive linkage
analysis and to isolate the DNA spanning this locus by directed cloning.
These clones will be used for fine structure genetic and physical
mapping, for screening panels of affected individuals for sub-microscopic
deletions and rearrangements, and for the identification of candidate
genes by exon trapping.
With the identification of closely-linked highly informative flanking
markers, DNA-based pre-natal and pre-symptomatic diagnosis can be offered
to at-risk families well before the actual cloning and characterization
of the disease gene. The identification of mutations within the gene
will allow carrier testing in selected populations. Knowledge of the
molecular defect in JNCL will help elucidate the biochemical pathways
involved in the pathogenesis of the disease, shed light on the possible
cause of the other ceroid lipofuscinoses, and provide a starting point
for the design of rational therapies.
这项研究的长期目标是了解分子
神经性蜡样脂褐素增多症(NCL;巴顿病)的基础。NCL
是儿童时期最常见的神经退行性疾病,
以进行性精神恶化、癫痫发作和视力为特征
损失。这种疾病的特点是自身荧光的积聚。
神经元和其他组织中超微结构胞体中的脂类物质。
现在根据发病年龄识别出四个主要亚型,
临床表现和超微结构形态:婴儿(包括),
仅见于芬兰;婴儿晚期(LNCL);青少年(JNCL);以及
成人(库夫斯病)。除了可能的成体外,
遗传是常染色体隐性遗传。估计NCL的发病率
在1-5/10万之间。尽管进行了密集的努力,但基本的生化缺陷
在NCL中,研究人员仍然躲避着。没有有效的治疗方法
这一致命的疾病。
这项建议的具体目的是克隆和鉴定该基因
NCL的幼体,CLN3。CLN3现已由Genetic定位
与信息量大的微卫星标记连锁到16p12.1。它
建议通过更广泛的链接来完善CLN3的本地化
分析并通过定向克隆分离跨越该基因座的DNA。
这些克隆将用于精细结构、遗传和物理
作图,用于亚显微筛选受影响个体的面板
删除和重新安排以及确定候选人的身份
通过外显子捕获获得基因。
具有紧密联系的高度信息量的侧翼
可以提供标志物、基于DNA的产前和症状前诊断
在真正的克隆和特征描述之前很久就给了高危家庭
疾病基因的基因。基因内突变的鉴定
将允许在选定的人群中进行携带者测试。了解以下内容
JNCL的分子缺陷将有助于阐明生化途径
参与了这种疾病的发病机制,揭示了可能的
其他蜡样脂褐素增多的原因,并提供了一个起点
用于设计合理的治疗方法。
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)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
TERRY J LERNER其他文献
TERRY J LERNER的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ truncateString('TERRY J LERNER', 18)}}的其他基金
相似海外基金
Deciphering electrophysiological Alzheimer's Disease biomarkers for early diagnosis using interpretable deep learning
使用可解释的深度学习破译电生理阿尔茨海默病生物标志物以进行早期诊断
- 批准号:
24K18602 - 财政年份:2024
- 资助金额:
$ 23.85万 - 项目类别:
Grant-in-Aid for Early-Career Scientists
Biomarker-Based Platform for Early Diagnosis of Chronic Liver Disease to Enable Personalized Therapy (LIVERAIM)
基于生物标志物的慢性肝病早期诊断平台,以实现个性化治疗(LIVERAIM)
- 批准号:
10087822 - 财政年份:2024
- 资助金额:
$ 23.85万 - 项目类别:
EU-Funded
Upconversion nanoparticle-based optical biosensor for early diagnosis of stroke
基于上转换纳米粒子的光学生物传感器用于中风的早期诊断
- 批准号:
MR/Y503460/1 - 财政年份:2024
- 资助金额:
$ 23.85万 - 项目类别:
Research Grant
New strategies to isolate bacteria for early diagnosis of sepsis
分离细菌用于脓毒症早期诊断的新策略
- 批准号:
2897688 - 财政年份:2023
- 资助金额:
$ 23.85万 - 项目类别:
Studentship
Implantable Optoelectronic Devices for Unified Early Diagnosis and Treatment: Toward Creation of Optoelectronic Pharmacolog
用于统一早期诊断和治疗的植入式光电装置:迈向光电药理学的创建
- 批准号:
23H05450 - 财政年份:2023
- 资助金额:
$ 23.85万 - 项目类别:
Grant-in-Aid for Scientific Research (S)
Imaging Protein Aggregates for Early Diagnosis and Monitoring of Parkinson's Disease
蛋白质聚集体成像用于帕金森病的早期诊断和监测
- 批准号:
MR/X021874/1 - 财政年份:2023
- 资助金额:
$ 23.85万 - 项目类别:
Research Grant
A Novel Framework for Sensitive and Reliable Early Diagnosis, Topographic Mapping, and Stiffness Classification of Colorectal Cancer Polyps
一种用于结直肠癌息肉敏感且可靠的早期诊断、地形测绘和硬度分类的新框架
- 批准号:
10742476 - 财政年份:2023
- 资助金额:
$ 23.85万 - 项目类别:
Liquid Biopsy using Multi-Nucleic Acid for the early diagnosis of PDAC
使用多核酸液体活检进行 PDAC 早期诊断
- 批准号:
23K06759 - 财政年份:2023
- 资助金额:
$ 23.85万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Movement pattern analysis of fasciculations detected by ultrasound images for the establishment of ultra-early diagnosis of amyotrophic lateral sclerosis
超声图像肌束颤动运动模式分析为肌萎缩侧索硬化症超早期诊断建立
- 批准号:
23K14767 - 财政年份:2023
- 资助金额:
$ 23.85万 - 项目类别:
Grant-in-Aid for Early-Career Scientists
Dvelopment of a comprehensive cervical cancer early diagnosis system through community collaboration by promoting digital transformation in the era of women's active roles.
通过社区合作,开发全面的宫颈癌早期诊断系统,推动女性积极作用时代的数字化转型。
- 批准号:
23H03236 - 财政年份:2023
- 资助金额:
$ 23.85万 - 项目类别:
Grant-in-Aid for Scientific Research (B)