MOLECULAR BASIS OF SYNDROMIC RETINITIS PIGMENTOSA
色素性视网膜炎的分子基础
基本信息
- 批准号:6138219
- 负责人:
- 金额:$ 26.68万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:1999
- 资助国家:美国
- 起止时间:1999-01-01 至 2003-12-31
- 项目状态:已结题
- 来源:
- 关键词:clinical research disease /disorder model electroretinography gene expression gene mutation genetic disorder diagnosis genetic mapping genetic markers genotype human genetic material tag human subject immunocytochemistry in situ hybridization magnetic resonance imaging model design /development molecular cloning molecular genetics molecular pathology northern blottings nucleic acid sequence phenotype pleiotropism polymerase chain reaction retinitis pigmentosa single strand conformation polymorphism southern blotting
项目摘要
The goal of this project is to isolate and characterize the gene for a
form of syndromic retinitis pigmentosa (RP), called Hallervorden-Spatz
syndrome (HSS) and characterized by abnormal electroretinogram,
lipofuscin accumulation in the retinal pigment epithelium, and early,
rapidly progressive pigmentary retinopathy. This autosomal recessive
disorder of childhood includes extrapyramidal dysfunction with iron
accumulation in the basal ganglia. Though lipid peroxidation is an
hypothesized mechanism leading to the HSS phenotype, no knowledge exists
of the molecular or biochemical defect. We propose a molecular genetic
approach to understanding this syndromic form of RP.
Our specific aims are to 1) identify the gene for HSS, designated NBIA1
(Neurodegeneration with Brain Iron Accumulation, type 1) by completing
the physical map of the critical region, identifying and screening
candidate genes, and demonstrating deleterious mutations; 2) develop the
molecular diagnosis of HSS using mutation studies and genotype-phenotype
correlation; 3) characterize the HSS gene and its protein product at the
tissue, cellular, subcellular and molecular levels using homology to
model organisms, sequence analysis, histopathology, immunohistochemistry
and studies of tissue expression patterns; and 4) isolate the murine
homolog of the HSS gene and develop a mouse model for HSS in order to
study its pathophysiology.
Knowledge about the HSS gene will allow molecular diagnosis in
individuals suspected to have this disease. As well, prenatal diagnosis
of this fatal condition will be feasible. By delineating the
pathophysiologic process in HSS, we may begin to develop rational
therapies, which may be of benefit in treating other forms of RP, as
well.
Rare diseases often illuminate the mechanisms at work in common, related
disorders. An advantage to studying syndromic RP is that the pleiotropic
manifestations provide a context to help delineate the mechanism of
retinopathy. The HSS gene is not retina-specific, and a defect in it
must account for rod photoreceptor degeneration as well as regional
brain iron accumulation. Furthermore, since defects in this non-retina-
specific process may cause other forms of syndromic and isolated RP and
may be integral in disorders of lipofuscin accumulation, including aging
macular degeneration, identification of the HSS gene may lead to greater
understanding of RP as well as the macular dystrophies associated with
senescence.
该项目的目的是分离和表征a的基因
项目成果
期刊论文数量(0)
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科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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SUSAN J HAYFLICK其他文献
SUSAN J HAYFLICK的其他文献
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{{ truncateString('SUSAN J HAYFLICK', 18)}}的其他基金
Coenzyme A replenishment as a therapeutic strategy for inborn errors of metabolism
补充辅酶 A 作为先天性代谢缺陷的治疗策略
- 批准号:
9243829 - 财政年份:2017
- 资助金额:
$ 26.68万 - 项目类别:
The Molecular Basis of Infantile Neuroaxonal Dystrophy
婴儿神经轴突营养不良的分子基础
- 批准号:
7105884 - 财政年份:2006
- 资助金额:
$ 26.68万 - 项目类别:
The Molecular Basis of Infantile Neuroaxonal Dystrophy
婴儿神经轴突营养不良的分子基础
- 批准号:
7348430 - 财政年份:2006
- 资助金额:
$ 26.68万 - 项目类别:
The Molecular Basis of Infantile Neuroaxonal Dystrophy
婴儿神经轴突营养不良的分子基础
- 批准号:
7231385 - 财政年份:2006
- 资助金额:
$ 26.68万 - 项目类别:
A PILOT STUDY TO DELINEATE BIOCHEMICAL PHENOTYPE AND CLINICAL OUTCOME MEASURES
描绘生化表型和临床结果指标的试点研究
- 批准号:
7206602 - 财政年份:2005
- 资助金额:
$ 26.68万 - 项目类别:
A Pilot Study to Delineate Biochemical Phenotype and Clinical Outcome Measures
描绘生化表型和临床结果指标的初步研究
- 批准号:
6981135 - 财政年份:2003
- 资助金额:
$ 26.68万 - 项目类别:
FIRST SCIENTIFIC WORKSHOP ON HALLERVORDEN-SPATZ SYNDROME
首届 Hallervorden-Spatz 综合征科学研讨会
- 批准号:
6191591 - 财政年份:2000
- 资助金额:
$ 26.68万 - 项目类别:
Molecular Basis of Syndromic Retinitis Pigmentosa
色素性视网膜炎的分子基础
- 批准号:
6727032 - 财政年份:1999
- 资助金额:
$ 26.68万 - 项目类别:














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