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1.发明授权Transgenic mouse models for diseases caused by mtDNA mutations and related methods 失效由mtDNA突变引起的疾病的转基因小鼠模型及相关方法公开(公告)号：US08203030B2
公开(公告)日：2012-06-19
申请号：US12205588
申请日：2008-09-05
IPC分类号： G01N33/00 , A01K67/00 , A01K67/027
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
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2.发明申请Transgenic Mouse Models for Diseases Caused by mtDNA Mutations and Related Methods 失效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
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
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公开(公告)号：US20120247980A1
公开(公告)日：2012-10-04
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： G01N27/26 , B32B37/02 , G01N27/333
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。
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公开(公告)号：US20090082251A1
公开(公告)日：2009-03-26
申请号：US12156958
申请日：2008-06-04
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。
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公开(公告)号：US20080289053A1
公开(公告)日：2008-11-20
申请号：US11901249
申请日：2007-09-14
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。
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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
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。
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公开(公告)号：US20110243854A1
公开(公告)日：2011-10-06
申请号：US12925539
申请日：2010-10-20
IPC分类号： A61K49/00 , G01N33/48 , C40B60/08 , C12Q1/02 , A61K31/7076 , A61K31/135 , A61K31/409 , A61K31/555 , A61K38/02 , A61K48/00 , C12Q1/48 , C12Q1/44 , C12Q1/26 , C12Q1/28 , A61P35/00 , A61P43/00
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，包括施用催化性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。
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公开(公告)号：US20080268445A1
公开(公告)日：2008-10-30
申请号：US11871956
申请日：2007-10-12
申请人： Douglas C. Wallace , Grant MacGregor , Katrina Waymire , Shawn E. Levy , James E. Sligh , Jason E. Kokoszka
发明人： Douglas C. Wallace , Grant MacGregor , Katrina Waymire , Shawn E. Levy , James E. Sligh , Jason E. Kokoszka
IPC分类号： C12Q1/68 , A01K67/027 , C12N5/18 , C12Q1/02 , G01N33/68
CPC分类号： C07K14/47 , A01K67/0276 , A01K2217/075 , A01K2227/105 , A01K2267/03 , C12N15/8509 , C12N2517/02 , C12N2800/30
摘要： Described are methods for inactivating adenine nucleotide transporter proteins in specific tissues of a transgenic nonhuman animal using a conditional knockin/knockout technology such as the Cre-LoxP, Flip-FLP recombinase, or Tet-on/off technologies. Specifically, the Ant2 gene is functionally inactivated in a mouse in liver, with or without the concurrent inactivation of the Ant1 gene. The result is an animal in which the Ant2 gene and accompanying ANT 2 protein is absent in one or more tissues, either in the presence or absence of the Ant1 gene and accompanying protein. The resulting animals, cells, mitochondria, and subcelluar fractions such as the mitochondrial permeability transition pore can then be used to identify agents that affect animal and/or subcellular function via a direct or indirect interaction with the ANT2 protein and/or its Ant2 gene.
摘要翻译： 描述了使用诸如Cre-LoxP，Flip-FLP重组酶或Tet-on / off技术的条件敲入/敲除技术使转基因非人动物的特定组织中的腺嘌呤核苷酸转运蛋白失活的方法。 具体来说，Ant2基因在肝脏中的小鼠中功能失活，有或没有同时灭活Ant1基因。 结果是在存在或不存在Ant1基因和伴随的蛋白质的情况下，一种或多种组织中不存在Ant2基因和伴随的ANT2蛋白的动物。 所得到的动物，细胞，线粒体和亚细胞级分如线粒体通透性转换孔可用于通过与ANT2蛋白和/或其Ant2基因的直接或间接相互作用来鉴定影响动物和/或亚细胞功能的试剂。
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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。
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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
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。
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