Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial Disease
双基因组组学:采用基因组学技术揭示线粒体疾病的分子病理学
基本信息
- 批准号:10611386
- 负责人:
- 金额:$ 20.09万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2021
- 资助国家:美国
- 起止时间:2021-05-01 至 2026-03-31
- 项目状态:未结题
- 来源:
- 关键词:AddressAffectAmericanAnimal ModelAnimalsB-LymphocytesBiogenesisBiologyBiopsy SpecimenBloodBlood CellsBlood specimenBrainBrain DiseasesCell LineCell divisionCellsCellular StructuresCellular biologyChildhoodClinicClinicalCollaborationsDNADataDiagnosisDiagnosticDiseaseDisease ProgressionFDA approvedFailureFamilyFundingGenesGeneticGenetic DiseasesGenomeGenomicsGoalsHumanIndividualInstitutional Review BoardsK-Series Research Career ProgramsKnowledgeLaboratory MarkersLesionLeukocytesLinkMELAS SyndromeMeasurementMeasuresMembrane PotentialsMentorsMethodsMitochondriaMitochondrial DNAMitochondrial DiseasesMuscleMutationMyopathyNeurodegenerative DisordersNuclearOperative Surgical ProceduresOrganOxidative PhosphorylationPainPathogenesisPatientsPatternPerformancePersonsPhenotypePositioning AttributeProceduresProcessProductionRare DiseasesResearchSamplingSeverity of illnessSkeletal MuscleSymptomsT-Cell ActivationT-LymphocyteTechniquesTechnologyTestingTimeTissuesTraining SupportWhole BloodWorkcareercell typeclinical examinationcohortcollected worksdevelopmental diseaseexperimental studyfunctional statusgene functionheteroplasmyimprovedinhibitorinnovationmitochondrial DNA mutationmitochondrial membranemolecular pathologymonocyteneuroimagingnovel strategiesprognosticationprospectivesegregationskillssuccesstheoriestrait
项目摘要
PROJECT SUMMARY
Mitochondrial disorders are rare, often devastating genetic diseases affecting the brain, muscle, and other
organs caused by genetic failure of mitochondria, cellular structures that produce most of the cell’s energy.
Critically, there are no proven lab tests to track mitochondrial disease progression and no FDA-approved
therapies. Many hurdles exist to studying mitochondrial disorders in order to change this, two of which we
address in this project. First, because they are often most severely affected, earlier studies of mitochondrial
disease have focused on patient biopsy samples such as skeletal muscle that require surgery to obtain. Based
on clinical and research data, we are using blood instead, allowing us to collect many more samples without
painful and expensive procedures. Second, two sets of genes—nuclear and mitochondrial—are needed to
make mitochondria; and most methods used to study genes and their functional status can only be used to
examine one type. We are using modified techniques to allow us to study the presence of damaged
mitochondrial genes and functional status of nuclear genes at the same time. Using these two new
approaches, we have discovered a new cell type-specific pattern of damaged mitochondrial genes. In this
proposal, we aim to determine if cell type-specific patterns of damaged mitochondrial genes track with disease
progression, how these patterns arise, and how the amount of damaged mitochondrial genes related to
mitochondrial function in single cells. If successful, these experiments will improve our understanding of how
genetic changes cause the symptoms of mitochondrial disease and may lead to theories of how to develop
clinical lab tests for mitochondrial disease severity and, potentially, theories of how to treat mitochondrial
disorders.
项目摘要
线粒体疾病是罕见的,通常是破坏性的遗传疾病,影响大脑,肌肉和其他组织。
线粒体是产生细胞大部分能量的细胞结构。
关键的是,没有经过证实的实验室测试来跟踪线粒体疾病的进展,也没有FDA批准的
治疗为了改变这种状况,研究线粒体疾病存在许多障碍,其中两个障碍是我们
地址在这个项目中。首先,因为它们通常受到最严重的影响,
疾病集中在需要手术获得的患者活组织检查样品如骨骼肌上。基于
在临床和研究数据上,我们使用血液代替,使我们能够收集更多的样本,
痛苦和昂贵的程序。其次,需要两组基因--核基因和核基因--来
制造线粒体;大多数用于研究基因及其功能状态的方法只能用于
检查一个类型。我们正在使用改良的技术来研究
线粒体基因和核基因的功能状态。利用这两个新的
通过这种方法,我们发现了一种新的细胞类型特异性线粒体基因受损模式。在这
我们的目标是确定受损线粒体基因的细胞类型特异性模式是否与疾病有关
进展,这些模式是如何出现的,以及受损的线粒体基因的数量如何与
线粒体在单个细胞中的功能。如果成功的话,这些实验将提高我们对
遗传变化导致线粒体疾病的症状,并可能导致如何发展的理论,
线粒体疾病严重程度的临床实验室测试,以及如何治疗线粒体疾病的潜在理论,
紊乱
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)
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MELISSA Anne WALKER其他文献
MELISSA Anne WALKER的其他文献
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{{ truncateString('MELISSA Anne WALKER', 18)}}的其他基金
Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial Disease
双基因组组学:采用基因组学技术揭示线粒体疾病的分子病理学
- 批准号:
10214794 - 财政年份:2021
- 资助金额:
$ 20.09万 - 项目类别:
Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial Disease
双基因组组学:采用基因组学技术揭示线粒体疾病的分子病理学
- 批准号:
10396078 - 财政年份:2021
- 资助金额:
$ 20.09万 - 项目类别:
Structural and Functional Studies of Invertebrate Classical Cadherins
无脊椎动物经典钙粘蛋白的结构和功能研究
- 批准号:
7541581 - 财政年份:2008
- 资助金额:
$ 20.09万 - 项目类别:
Structural and Functional Studies of Invertebrate Classical Cadherins
无脊椎动物经典钙粘蛋白的结构和功能研究
- 批准号:
7688607 - 财政年份:2008
- 资助金额:
$ 20.09万 - 项目类别:
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