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1. 发明申请

US20090082251A1 Mitochondrial DNA variants associated with metabolic syndrome 审中-公开
标题翻译：与代谢综合征相关的线粒体DNA变体
公开(公告)号：US20090082251A1
公开(公告)日：2009-03-26
申请号：US12156958
申请日：2008-06-04
申请人： Douglas C. Wallace , Ping H. Wang , Lee-Ming Chuang
发明人： Douglas C. Wallace , Ping H. Wang , Lee-Ming Chuang
IPC分类号： A61K38/02 , C12Q1/68 , G01N33/50 , G01N33/68
CPC分类号： G01N33/5076 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Q2600/172 , G01N2800/04 , Y10T436/143333
摘要： Provided are methods of identifying Metabolic Syndrome phenotypes for an organism or a biological sample derived therefrom which methods are based on detecting a polymorphism, haplotype, haplotype group, or haplotype subgroup in the mitochondrial genome of the organism and correlating the polymorphism or haplotype to a Metabolic Syndrome phenotype. Also provided are systems or kits for the detection of such polymorphisms or haplotypes and the correlation of the polymorphisms or haplotypes to a Metabolic Syndrome phenotype. Provided are methods of identifying a modulator of a Metabolic Syndrome phenotype and kits for the treatment of a Metabolic Syndrome phenotype.
摘要翻译：提供了鉴定生物体或其衍生的生物样品的代谢综合征表型的方法，所述方法基于检测生物体的线粒体基因组中的多态性，单倍型，单倍型组或单倍型亚组，并将多态性或单倍型与代谢相关综合征型。还提供了用于检测这些多态性或单倍型的系统或试剂盒以及多态性或单倍型与代谢综合征表型的相关性。提供鉴定代谢综合征表型的调节剂的方法和用于治疗代谢综合征表型的试剂盒。

2. 发明申请

US20080289053A1 Methods and systems for identifying modulators of longevity 审中-公开
标题翻译：识别寿命调节剂的方法和系统
公开(公告)号：US20080289053A1
公开(公告)日：2008-11-20
申请号：US11901249
申请日：2007-09-14
申请人： Douglas C. Wallace , James Jiayuan Tong
发明人： Douglas C. Wallace , James Jiayuan Tong
IPC分类号： A01K67/00
CPC分类号： C07K14/4703 , A01K67/0339 , A01K2217/052 , A01K2217/15 , A01K2227/706 , A01K2267/0306
摘要： Methods of treating disorders such as neurofibromatosis-1 are provided, including methods in which catalytic antioxidants such as metalloporphyrins are administered. Methods of regulating longevity, and methods and systems for screening for modulators of aging or longevity, are also provided. In addition, related transgenic animals are described.
摘要翻译：提供治疗诸如神经纤维瘤病1之类疾病的方法，包括施用催化抗氧化剂如金属卟啉的方法。还提供了调节寿命的方法，以及用于筛选老化或长寿命调节剂的方法和系统。此外，描述了相关的转基因动物。

3. 发明授权

US5185244A Genetic test for hereditary neuromuscular disease 失效
标题翻译：遗传性神经肌肉疾病遗传检测
公开(公告)号：US5185244A
公开(公告)日：1993-02-09
申请号：US447679
申请日：1989-12-08
申请人： Douglas C. Wallace
发明人： Douglas C. Wallace
IPC分类号： C12N9/04 , C12Q1/68
CPC分类号： C12N9/0006 , C12Q1/6883 , C12Q2600/156 , Y10T436/143333
摘要： The present invention relates a method and manufacture for detecting neuromuscular disease, particularly Leber's hereditary optic neuropathy, by ascertaining whether a point mutation has occurred at the 11778 nucleotide position in the mitochondrial DNA of a patient. The invention provides methods to detect this mutation including digestion of the patient's mtDNA with restriction endonucleases followed by analysis of the resulting fragments, differential hybridization of oligonucleotides procedures, and differential PCR techniques.
摘要翻译：本发明涉及通过确定患者的线粒体DNA中11778位核苷酸位点是否发生点突变来检测神经肌肉疾病，特别是Leber遗传性视神经病变的方法和制造。本发明提供了检测该突变的方法，包括用限制性内切核酸酶消化患者的mtDNA，然后分析得到的片段，寡核苷酸步骤的差异杂交和差异PCR技术。

4. 发明授权

US08961759B2 Device and method for mitochondrial membrane potential assessment 有权
标题翻译：线粒体膜电位评估装置及方法
公开(公告)号：US08961759B2
公开(公告)日：2015-02-24
申请号：US13412515
申请日：2012-03-05
申请人： Peter Burke , Tae-Sun Lim , Antonio Davila , Douglas C. Wallace , Katayoun Zand
发明人： Peter Burke , Tae-Sun Lim , Antonio Davila , Douglas C. Wallace , Katayoun Zand
IPC分类号： G01N27/414 , G01N27/403 , G01N33/483
CPC分类号： G01N27/4035 , G01N33/4833 , Y10S435/82
摘要： A microfluidic sensor device includes a substrate having patterned thereon at least one Ag/AgCl electrode (working electrode) and an inner chamber overlying the at least one Ag/AgCl electrode. The device includes an ion selective permeable membrane permeable to TPP+ disposed on one side of the first chamber and a sensing chamber overlying the ion selective permeable membrane. A separate reference electrode is inserted into the sensing chamber. The working electrode and reference electrode are coupled to a voltmeter to measure voltage. This voltage can then be translated into a TPP+ concentration which is used to determine the mitochondrial membrane potential (ΔΨm).
摘要翻译：微流体传感器装置包括其上具有图案化的至少一个Ag / AgCl电极（工作电极）和覆盖至少一个Ag / AgCl电极的内室的基板。该装置包括设置在第一室的一侧上的可渗透TPP +的离子选择性渗透膜和覆盖离子选择性渗透膜的感测室。单独的参考电极插入感测室。工作电极和参考电极耦合到电压表以测量电压。然后可以将该电压转化为用于确定线粒体膜电位（＆Dgr;Ψm）的TPP +浓度。

5. 发明申请

US20080280294A1 Inherited Mitochondrial Dna Mutations in Cancer 审中-公开
标题翻译：继承的线粒体Dna突变在癌症
公开(公告)号：US20080280294A1
公开(公告)日：2008-11-13
申请号：US11813660
申请日：2005-12-27
申请人： John Petros , Amanda Baumann , Douglas C. Wallace , Carrie Sun , Muta Issa , Fray F. Marshall
发明人： John Petros , Amanda Baumann , Douglas C. Wallace , Carrie Sun , Muta Issa , Fray F. Marshall
IPC分类号： C12Q1/68 , C07H21/00
CPC分类号： C12Q1/6886 , C12Q2600/156 , C12Q2600/172
摘要： A method is provided for identifying a subject likely to have, or at risk of developing a disease condition correlated with increased reactive oxygen species (ROS), including cancer, by identifying in the subject a missense mutation in a nucleic acid of Complex III, IV and/or V of the OXPHOS system. This invention also provides a method of identifying a likelihood of having a heritable predisposition to cancer by detecting a homoplasmic missense mutation in non-tumor tissue of an OXPHOS system gene. This invention also provides a method for detecting likelihood of having cancer, predisposition to cancer, and likelihood of passing a predisposition to cancer to progeny involving identifying in non-tumor tissue of the subject a missense mutation in a complex III, IV and/or V gene of the mitochondrial OXPHOS system. The mutation may be a nuclear or mitochondrial mutation. The invention has been exemplified with respect to prostate cancer. When the mutation is homoplasmic in non-tumor tissue this is an indication it is an inherited and inheritable trait, and that the subject is likely to pass on the mutation to her progeny in the case of mutations in mitochondrial DNA or his or her progeny in the case of mutations in nuclear DNA. Both homoplasmic and heteroplasmic mutations in non-tumor tissue can indicate the presence of cancer.
摘要翻译：提供了一种方法，用于通过在受试者中识别复合物III，IV的核酸中的错义突变来识别可能具有或有发展与增加的活性氧（ROS）（包括癌症）相关的疾病状况的对象的受试者和/或V。本发明还提供了一种通过检测OXPHOS系统基因的非肿瘤组织中的同质错义突变来鉴定具有遗传性易患癌症的可能性的方法。本发明还提供了一种用于检测癌症可能性，癌症易感性和将癌症倾向通过后代的可能性的方法，其涉及在复合体III，IV和/或V中的受试者的非肿瘤组织中鉴定错义突变线粒体OXPHOS系统的基因。突变可能是核或线粒体突变。关于前列腺癌，已经举例说明了本发明。当突变在非肿瘤组织中是同质的时，这表明它是一种遗传和遗传性状，并且在线粒体DNA突变或其后代的情况下，受试者很可能将突变传给她的后代核DNA突变的情况。非肿瘤组织中均质和异质性突变均可表明存在癌症。

6. 发明授权

US06900026B2 Methods for identifying compounds as antioxidants 失效
标题翻译：鉴定化合物作为抗氧化剂的方法
公开(公告)号：US06900026B2
公开(公告)日：2005-05-31
申请号：US10039869
申请日：2001-11-09
申请人： Douglas C. Wallace , Simon Melov , James D. Crapo , Brian J. Day
发明人： Douglas C. Wallace , Simon Melov , James D. Crapo , Brian J. Day
IPC分类号： A61K49/00 , C12N9/02 , C12N15/85 , C12Q1/34
CPC分类号： C12N15/8509 , A01K67/0276 , A01K2217/075 , A01K2227/105 , A01K2267/03 , A01K2267/0393 , A61K49/0008 , C12N9/0089
摘要： The present application describes methods for the testing of compounds of potential usefulness as therapeutic antioxidants and/or as therapeutic free radical scavengers. The animal model for testing such compounds is the Sod2CJE homozygous Manganese Superoxide Dismutase-deficient mouse. When pups of these mice are treated with certain antioxidants, they survive past about 7 days of age, and later develop characteristic histological changes and characteristic neurobehavioral disorders. Those treated mice can be further treated with test compounds which may or may not cross the blood brain barrier, and the life span and physical and neurobehavioral characteristics of those mice provide information about the potential utility of the test compound as a therapeutic antioxidant. Phenotypes of the treated mice allow conclusions regarding targeted areas of the brain and thus, applications to particular disorders such as Parkinsonism.
摘要翻译：本申请描述了测试作为治疗性抗氧化剂和/或作为治疗性自由基清除剂的潜在有用性的化合物的方法。用于测试这些化合物的动物模型是Sod2CJE纯合的锰超氧化物歧化酶缺陷型小鼠。当这些小鼠的幼仔用某些抗氧化剂处理时，它们可以在约7天龄之后存活，并且随后发展特征性组织学变化和特征性神经行为障碍。那些治疗的小鼠可以进一步用可能或不可能穿过血脑屏障的测试化合物进行治疗，并且这些小鼠的寿命和物理和神经行为特征提供了关于测试化合物作为治疗性抗氧化剂的潜在效用的信息。经处理的小鼠的表型允许关于脑的目标区域的结论，因此可以应用于特定疾病如帕金森综合征。

7. 发明授权

US5670320A Detection of mitochondrial DNA mutation 14459 associated with dystonia and/or Leber's hereditary optic neuropathy 失效
标题翻译：检测与肌张力障碍和/或Leber遗传性视神经病变相关的线粒体DNA突变14459
公开(公告)号：US5670320A
公开(公告)日：1997-09-23
申请号：US339912
申请日：1994-11-14
申请人： Douglas C. Wallace , Michael D. Brown
发明人： Douglas C. Wallace , Michael D. Brown
IPC分类号： C12Q1/68 , C07H21/02 , C12M1/00 , G01N33/53
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides an assay for diagnosing or predicting a predisposition to dystonia and/or Leber's Hereditary Optic Neuropathy by detecting the presence of a mutation in mitochondrial DNA, in the oxidative phosphorylation (OXPHOS) gene ND6, that causes a substitution in amino acid 72 of the ND6 polypeptide. In particular, the mutation can be at mtDNA position 14459. Also provided are therapeutic treatments for dystonia and/or Leber's Hereditary Optic Neuropathy, as well as methods of screening compounds for effectiveness in treating these diseases and an animal model.
摘要翻译：本发明提供了通过检测在氧化磷酸化（OXPHOS）基因ND6中线粒体DNA中的突变的存在来诊断或预测肌张力障碍和/或Leber's遗传性视神经病变的倾向的测定法，其在氨基酸72中引起取代的ND6多肽。特别地，突变可以在mtDNA位置14459。还提供了用于肌张力障碍和/或Leber's遗传性视神经病变的治疗性治疗，以及筛选化合物用于治疗这些疾病的有效性的方法和动物模型。

8. 发明申请

US20100169985A1 Transgenic Mouse Models for Diseases Caused by mtDNA Mutations and Related Methods 失效
标题翻译： mtDNA突变引起的疾病转基因小鼠模型及相关方法
公开(公告)号：US20100169985A1
公开(公告)日：2010-07-01
申请号：US12205588
申请日：2008-09-05
申请人： Douglas C. Wallace , Wei Wei Fan , Katrina G. Waymire
发明人： Douglas C. Wallace , Wei Wei Fan , Katrina G. Waymire
IPC分类号： A61K49/00 , A01K67/00 , A61P9/10 , A61P17/14 , A61P15/10
CPC分类号： A01K67/0275 , A01K2217/052 , A01K2227/105 , A01K2267/03 , A61K49/0008 , C12N15/8509
摘要： Animal models and methods wherein homoplasmic and heteroplasmic mtDNA mutation(s) are induced in an animal (e.g., a mouse) to cause or facilitate the development of a disorder (e.g., disease, malformation, defect, abnormality or other disorder). In at least some embodiments, the mtDNA mutation(s) will cause or facilitate the development of an age-related disorder, such as a cardiac disease, cardiomyopathy, muscle disease, cancer, abnormaly in tissues of high cellular turnover, heart dysfunction, graying of hair, alopecia, auditory function loss, cochlear degeneration, immune cell loss, anemia, male germ cell loss leading to lack of sperm and infertility, skeletal muscle mass loss (sarcopenia), neurodegeneration, increased presence of apoptotic markers, and loss of bone mass.
摘要翻译：动物模型和方法，其中在动物（例如小鼠）中诱导同质和异质性mtDNA突变以引起或促进疾病（例如疾病，畸形，缺陷，异常或其他病症）的发展。在至少一些实施方案中，mtDNA突变将引起或促进年龄相关疾病的发展，例如心脏病，心肌病，肌肉疾病，癌症，高细胞周转组织中的异常，心脏功能障碍，灰化的头发，脱发，听觉功能丧失，耳蜗变性，免疫细胞丧失，贫血，男性生殖细胞损失导致精子和不孕不育，骨骼肌质量损失（肌肉减少），神经变性，凋亡标志物的增加和骨丢失质量

9. 发明申请

US20090111093A1 Methods and compositions for pre-symptomatic or post-symptomatic diagnosis of alzheimer's disease and other neurodegenerative disorders 审中-公开
标题翻译：阿尔茨海默病和其他神经退行性疾病症状或症状后症状诊断的方法和组合物
公开(公告)号：US20090111093A1
公开(公告)日：2009-04-30
申请号：US10594825
申请日：2005-03-29
申请人： Douglas C. Wallace , Pinar E. Coskun
发明人： Douglas C. Wallace , Pinar E. Coskun
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158
摘要： Methods, compositions and apparatus (e.g., test kits, test systems, reagents, related computer software, calculators, etc.) for pre-symptomatic or post-symptomatic diagnosis of Alzheimer's Disease or other disorders associated with the formation of β-amyloid deposits (e.g., plaques) and/or β-amyloid fibrils. Also, methods, compositions and apparatus assessing the efficacy of treatments for such disorders. Sample cells, tissue or body fluid are obtained from a human or animal subject and analyzed to determine whether or to what extent certain mitochondrial DNA control region (mtDNA CR). Significantly elevated numbers of these mtDNA CR mutations may indicate that the subject suffers from, or is at increased risk for development of, Alzheimer's Disease or other disorders associated with the formation of β-amyloid deposits (e.g., plaques) and/or β-amyloid fibrils. A significant decrease in the numbers of these mtDNA CR mutations during treatment for the disorder may indicate that the treatment is effective.
摘要翻译：用于阿尔茨海默病或与β-淀粉样蛋白沉积形成相关的其他疾病的症状性或症状后症状的方法，组合物和装置（例如测试试剂盒，测试系统，试剂，相关的计算机软件，计算器等）例如斑块）和/或β-淀粉样蛋白原纤维。此外，方法，组合物和装置评估治疗对这种疾病的功效。样品细胞，组织或体液从人或动物受试者获得并分析以确定某些线粒体DNA控制区（mtDNA CR）是否或在何种程度上。这些mtDNA CR突变的数量显着增加可能表明该受试者患有阿尔茨海默病或与β-淀粉样蛋白沉积物形成有关的其他疾病（例如斑块）和/或β-淀粉样蛋白原纤维。治疗期间这些mtDNA CR突变的数量显着减少可能表明治疗有效。

10. 发明授权

US6013858A Mouse lacking heart-muscle adenine nucleotide translocator protein and methods 失效
标题翻译：小鼠缺乏心肌腺嘌呤核苷酸转运蛋白和方法
公开(公告)号：US6013858A
公开(公告)日：2000-01-11
申请号：US961871
申请日：1997-10-31
申请人： Douglas C. Wallace , Brett H. Graham , Grant R. MacGregor
发明人： Douglas C. Wallace , Brett H. Graham , Grant R. MacGregor
IPC分类号： A61K49/00 , C12N15/85 , C12N15/09 , C12N5/00 , C12N15/00 , C12N15/63
CPC分类号： C12N15/8509 , A01K67/0276 , A61K49/0008 , A01K2217/072 , A01K2217/075 , A01K2227/105 , A01K2267/03
摘要： Provided are transgenic mice genetically engineered for a deficiency of the heart-skeletal muscle isoform of the adenine nucleotide translocator protein (Ant1). These mice exhibit histological, biochemical and physiological signs of deficiency in oxidative phosphorylation and energy generation, and these mice provide the first animal model for mitochondrial myopathy and hypertrophic cardiomyopathy. This animal model is used in methods for testing compounds for therapeutic value in treating failure to exchange ATP and ADP across the mitochondrial inner membrane, OXPHOS deficiency and in treating cardiac hypertrophy.
摘要翻译：提供基因工程改造用于腺嘌呤核苷酸转运蛋白（Ant1）的心脏 - 骨骼肌亚型的缺陷的转基因小鼠。这些小鼠表现出氧化磷酸化和能量产生缺乏的组织学，生物化学和生理学迹象，并且这些小鼠提供线粒体肌病和肥大性心肌病的第一动物模型。该动物模型用于测试化合物治疗价值的方法，用于治疗不能通过线粒体内膜，OXPHOS缺陷和治疗心脏肥大的ATP和ADP的交换。

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