ES2607897T3 - Procedimiento para el diagnóstico de patologías caracterizadas por los depósitos anómalos de amiloide en órganos y tejidos mediante la detección de una mutación en la posición 673 en APP770, y vector y péptido para su uso en el tratamiento de dichas patologías - Google Patents

Procedimiento para el diagnóstico de patologías caracterizadas por los depósitos anómalos de amiloide en órganos y tejidos mediante la detección de una mutación en la posición 673 en APP770, y vector y péptido para su uso en el tratamiento de dichas patologías Download PDF

Info

Publication number
ES2607897T3
ES2607897T3 ES08838209.8T ES08838209T ES2607897T3 ES 2607897 T3 ES2607897 T3 ES 2607897T3 ES 08838209 T ES08838209 T ES 08838209T ES 2607897 T3 ES2607897 T3 ES 2607897T3
Authority
ES
Spain
Prior art keywords
app
mutation
amyloid
peptide
wild
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Active
Application number
ES08838209.8T
Other languages
English (en)
Spanish (es)
Inventor
Giuseppe Di Fede
Michela Morbin
Fabrizio Tagliavini
Alfredo Martini
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Fond I R C C S St Neurologico 'carlo Besta'
Fondazione Irccs Istituto Neurologico 'carlo Besta'
Original Assignee
Fond I R C C S St Neurologico 'carlo Besta'
Fondazione Irccs Istituto Neurologico 'carlo Besta'
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Fond I R C C S St Neurologico 'carlo Besta', Fondazione Irccs Istituto Neurologico 'carlo Besta' filed Critical Fond I R C C S St Neurologico 'carlo Besta'
Application granted granted Critical
Publication of ES2607897T3 publication Critical patent/ES2607897T3/es
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4711Alzheimer's disease; Amyloid plaque core protein
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027New or modified breeds of vertebrates
    • A01K67/0275Genetically modified vertebrates, e.g. transgenic
    • A01K67/0278Knock-in vertebrates, e.g. humanised vertebrates
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/28Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/63Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/8509Vectors or expression systems specially adapted for eukaryotic hosts for animal cells for producing genetically modified animals, e.g. transgenic
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2207/00Modified animals
    • A01K2207/15Humanized animals
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/05Animals comprising random inserted nucleic acids (transgenic)
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/07Animals genetically altered by homologous recombination
    • A01K2217/075Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/15Animals comprising multiple alterations of the genome, by transgenesis or homologous recombination, e.g. obtained by cross-breeding
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00Animals characterised by species
    • A01K2227/10Mammal
    • A01K2227/105Murine
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00Animals characterised by purpose
    • A01K2267/03Animal model, e.g. for test or diseases
    • A01K2267/0306Animal model for genetic diseases
    • A01K2267/0312Animal model for Alzheimer's disease
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/46Assays involving biological materials from specific organisms or of a specific nature from animals; from humans from vertebrates
    • G01N2333/47Assays involving proteins of known structure or function as defined in the subgroups
    • G01N2333/4701Details
    • G01N2333/4709Amyloid plaque core protein

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Veterinary Medicine (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Environmental Sciences (AREA)
  • Neurology (AREA)
  • Analytical Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Plant Pathology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Biodiversity & Conservation Biology (AREA)
  • Animal Husbandry (AREA)
  • Toxicology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Neurosurgery (AREA)
  • Psychiatry (AREA)
  • Public Health (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Hospice & Palliative Care (AREA)
ES08838209.8T 2007-10-12 2008-10-10 Procedimiento para el diagnóstico de patologías caracterizadas por los depósitos anómalos de amiloide en órganos y tejidos mediante la detección de una mutación en la posición 673 en APP770, y vector y péptido para su uso en el tratamiento de dichas patologías Active ES2607897T3 (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
ITMI20071975 2007-10-12
IT001975A ITMI20071975A1 (it) 2007-10-12 2007-10-12 Prodotti e loro uso per la diagnosi prevenzione e-o cura di patologie umane e-o animali caraterizzate dalla anomala deposizione di sostanza b-amiloide e-o similamiloide in organi e tesstui umani e-o animali e metodo di screening per la determinazione
PCT/EP2008/008595 WO2009047002A2 (en) 2007-10-12 2008-10-10 Products and their use for the diagnosis, prevention, and/or care of human and/or animal pathologies characterised by the anomalous deposition of b-amyloid and/or amyloid-like substance in human and/or animal organs and tissues, and screening method for determining the risk of such pathologies

Publications (1)

Publication Number Publication Date
ES2607897T3 true ES2607897T3 (es) 2017-04-04

Family

ID=40313814

Family Applications (1)

Application Number Title Priority Date Filing Date
ES08838209.8T Active ES2607897T3 (es) 2007-10-12 2008-10-10 Procedimiento para el diagnóstico de patologías caracterizadas por los depósitos anómalos de amiloide en órganos y tejidos mediante la detección de una mutación en la posición 673 en APP770, y vector y péptido para su uso en el tratamiento de dichas patologías

Country Status (7)

Country Link
US (1) US20110010785A1 (enExample)
EP (1) EP2220251B1 (enExample)
JP (1) JP2011500007A (enExample)
CN (1) CN102037136A (enExample)
ES (1) ES2607897T3 (enExample)
IT (1) ITMI20071975A1 (enExample)
WO (1) WO2009047002A2 (enExample)

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
DE102010001198A1 (de) * 2010-01-26 2011-07-28 Robert Bosch GmbH, 70469 Verfahren zur Identifikation von Verbrauchern bzw. Erzeugern in einem pneumatischen, hydraulischen oder elektrischen Netz
US9238796B2 (en) 2010-06-04 2016-01-19 Toagosei Co. Ltd. Cell growth-promoting peptide and use thereof
JP5650249B2 (ja) * 2011-01-07 2015-01-07 セイコーエプソン株式会社 アミロイド前駆体タンパク質のシグナルペプチドに対する抗体
WO2013180011A1 (ja) 2012-05-28 2013-12-05 東亞合成株式会社 抗菌ペプチド及びその利用
WO2014061749A1 (ja) 2012-10-18 2014-04-24 東亞合成株式会社 2型tnf受容体の発現を抑制する合成ペプチド及びその利用
CN102943126A (zh) * 2012-12-12 2013-02-27 芮屈生物技术(上海)有限公司 老年性痴呆病变前期APP基因mRNA水平原位杂交筛查试剂盒及筛查方法和应用
DE102013201324B4 (de) 2013-01-28 2024-05-16 Aktiebolaget Skf Verfahren zum Bestimmen einer Lagervorspannung
CN106574930B (zh) * 2014-05-22 2019-09-03 株式会社岛津制作所 评价脑内的淀粉样蛋白β肽蓄积状态的替代性生物标记物和其分析方法
US20160011616A1 (en) * 2014-07-11 2016-01-14 Microsoft Technology Licensing, Llc Power management
WO2016172955A1 (zh) * 2015-04-30 2016-11-03 江苏挪贝肽医药科技有限公司 一种筛选用于治疗阿尔茨海默病的药物和治疗靶点的方法
CN109776665B (zh) * 2019-02-02 2021-02-05 首都医科大学宣武医院 阿尔茨海默病新突变、其稳转细胞模型及医药用途
IT201900010722A1 (it) * 2019-07-02 2021-01-02 Fondazione Irccs St Neurologico Carlo Besta Composto e composizione per il trattamento multi-obiettivo di disturbi legati alla proteina tau
EP4262846A4 (en) * 2020-12-18 2024-11-20 Baylor College of Medicine ADMINISTRATION OF ABETA VARIANTS FOR INHIBITION OF AGGREGATION

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6787523B1 (en) * 1997-12-02 2004-09-07 Neuralab Limited Prevention and treatment of amyloidogenic disease
US7196163B2 (en) * 2001-05-22 2007-03-27 Merk & Co., Inc. Assays using amyloid precursor proteins with modified β-secretase cleavage sites to monitor β-secretase activity
US20050106731A1 (en) * 2002-08-05 2005-05-19 Davidson Beverly L. siRNA-mediated gene silencing with viral vectors
BRPI0610093A2 (pt) * 2005-05-05 2008-12-09 Merck & Co Inc composiÇço farmacÊutica, e, mÉtodo para prevenir ou tratar uma doenÇa associada com os depàsitos de amilàides de alfa-beta no cÉrebro de um paciente
MX2008006957A (es) * 2005-11-30 2008-10-20 Abbott Lab Metodos para la preparacion de formas recombinantes de proteina beta-amiloide humana y usos de estas proteinas.

Also Published As

Publication number Publication date
CN102037136A (zh) 2011-04-27
ITMI20071975A1 (it) 2009-04-13
JP2011500007A (ja) 2011-01-06
US20110010785A1 (en) 2011-01-13
EP2220251A2 (en) 2010-08-25
EP2220251B1 (en) 2016-08-03
WO2009047002A3 (en) 2009-08-06
WO2009047002A2 (en) 2009-04-16

Similar Documents

Publication Publication Date Title
ES2607897T3 (es) Procedimiento para el diagnóstico de patologías caracterizadas por los depósitos anómalos de amiloide en órganos y tejidos mediante la detección de una mutación en la posición 673 en APP770, y vector y péptido para su uso en el tratamiento de dichas patologías
Hadano et al. Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
ES2314979T3 (es) Secuencias geneticas y proteinas relacionadas con la enfermedad de alzheimer, y sus uso de las mismas.
JP2000506375A (ja) アルツハイマー病に関連する核酸およびタンパク質、ならびにその使用
US20040152871A1 (en) Synovial membrane cell protein
Traka et al. WDR81 is necessary for purkinje and photoreceptor cell survival
ES2241654T3 (es) Polipeptido, humanina, que suprime la muerte neuronal.
Vanden Dries et al. Amyloid precursor protein reduction enhances the formation of neurofibrillary tangles in a mutant tau transgenic mouse model
Brunner et al. Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds
US6262035B1 (en) Gene replacement therapy for muscular dystrophy
US6452065B2 (en) Transgenic mouse expressing non-native wild-type and familial Alzheimer's Disease mutant presenilin 1 protein on native presenilin 1 null background
JP2000516087A (ja) アルツハイマー病に関連する遺伝子配列およびタンパク質、ならびにその使用
AU2003243893A1 (en) Transgenic rat as animal model for human Huntingdon's Disease
JP4018304B2 (ja) 高親和性コリントランスポーター
KR20060036466A (ko) 수용체
WO2007135570A2 (en) Pink1 deficient animals, screening methods, and related therapeutics
Bernstein et al. Connexins and heritable human diseases
EP1785728A1 (en) Methods and devices for selecting compounds that interact with importin alpha7 and related uses thereof
Flores Mechanisms of Neurodegeneration in ALS and FTD
WO2002097079A2 (en) Gene encoding molecular motor protein and diagnosis method for the disease related to the gene
WO2004074302A2 (en) Autosomal recessive polycystic kidney disease nucleic acids and peptides
Lethality ARTICLE Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia
JP2009506765A (ja) Vdccガンマ−8イオンチャネル
Colciago BNIP3: A POTENTIAL TARGET FOR THE TREATMENT OF MITOCHONDRIAL DYSFUNCTION IN HUNTINGTON'S DISEASE.
Wang The functions of FE65 proteins and their roles in dementias of the Alzheimer type