BR112012021260A2 - marcador genético para o diagnóstico de demência com corpos de lewy. - Google Patents

marcador genético para o diagnóstico de demência com corpos de lewy.

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Publication number
BR112012021260A2
BR112012021260A2 BR112012021260A BR112012021260A BR112012021260A2 BR 112012021260 A2 BR112012021260 A2 BR 112012021260A2 BR 112012021260 A BR112012021260 A BR 112012021260A BR 112012021260 A BR112012021260 A BR 112012021260A BR 112012021260 A2 BR112012021260 A2 BR 112012021260A2
Authority
BR
Brazil
Prior art keywords
dementia
diagnosis
lewy bodies
positions
genetic marker
Prior art date
Application number
BR112012021260A
Other languages
English (en)
Inventor
Ariza Fernández Aurelio
Beyer Katrin
Domingo Sàbat Montserrat
Original Assignee
Fundacio Inst Dinvestigacio En Ciencies De La Salut Germans Trias I Pujol
Univ Barcelona Autonoma
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 Fundacio Inst Dinvestigacio En Ciencies De La Salut Germans Trias I Pujol, Univ Barcelona Autonoma filed Critical Fundacio Inst Dinvestigacio En Ciencies De La Salut Germans Trias I Pujol
Publication of BR112012021260A2 publication Critical patent/BR112012021260A2/pt

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/112—Disease subtyping, staging or classification
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/16—Primer sets for multiplex assays
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Food Science & Technology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

marcador genético para o diagnóstico de demência com corpos de lewy. a presente invenção refere-se as alterações específicas no gene bche que têm sido encontradas, as quais permitem a determinação se um paciemnte sofre de demência com corpos de lewy (dlb), e permite a distinção de alzheimer. a invenção proporciona um método in vitro paraq o diagnósticoi de dlb compreendendo a determinação de uma amostra biológica de um sujeito, o genótipo das seguintes alterações no gene da butirilcolinesterase (bche): os locais polimórficos na posição 68974 em número de acesso ncbi ng_ 009031 (isto é, a posição 934 em seq id no: 28), e os locais polimórficos 3687,4206,44443, e a região de politimina nas posições com referidas posições com referência ao número de acesso ncbi ng_ 009031 (isto é, as posições 3687 e 4206 e 4443, respectivamente na seq id no: 1), que correspondem à sequência de nucleotídeos do gene bche humano.
BR112012021260A 2010-02-24 2011-02-24 marcador genético para o diagnóstico de demência com corpos de lewy. BR112012021260A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP10382042A EP2360280A1 (en) 2010-02-24 2010-02-24 Genetic marker for the diagnosis of dementia with Lewy bodies
PCT/EP2011/000903 WO2011104023A1 (en) 2010-02-24 2011-02-24 Genetic marker for the diagnosis of dementia with lewy bodies

Publications (1)

Publication Number Publication Date
BR112012021260A2 true BR112012021260A2 (pt) 2017-11-14

Family

ID=42077915

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112012021260A BR112012021260A2 (pt) 2010-02-24 2011-02-24 marcador genético para o diagnóstico de demência com corpos de lewy.

Country Status (16)

Country Link
US (1) US20130101997A1 (pt)
EP (2) EP2360280A1 (pt)
JP (1) JP2013520185A (pt)
KR (2) KR20130049771A (pt)
CN (1) CN102869786B (pt)
AU (1) AU2011220065A1 (pt)
BR (1) BR112012021260A2 (pt)
CA (1) CA2789054A1 (pt)
CL (1) CL2012002347A1 (pt)
IL (1) IL221313A0 (pt)
MX (1) MX2012009506A (pt)
NZ (1) NZ602551A (pt)
RU (1) RU2012140458A (pt)
SG (1) SG183437A1 (pt)
WO (1) WO2011104023A1 (pt)
ZA (1) ZA201206975B (pt)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2360280A1 (en) * 2010-02-24 2011-08-24 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Genetic marker for the diagnosis of dementia with Lewy bodies
KR20140094675A (ko) * 2011-07-29 2014-07-30 유니버시타트 아우토노마 데 바르셀로나 루이소체 치매 진단용 유전자 마커
EP2990800A1 (en) * 2014-08-29 2016-03-02 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Neprilysin as heartfailure (HF) prognostic marker
WO2016164474A1 (en) * 2015-04-06 2016-10-13 The Trustees Of Columbia University In The City Of New York Predictive value of combined genetic enzymatic and lipidomic data in disease risk for lewy body disease
EP3091087A1 (en) 2015-05-08 2016-11-09 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Method for in vitro diagnosis of synucleinopathies using alpha-synuclein gene transcripts
WO2016180725A1 (en) 2015-05-08 2016-11-17 Fundació Institut D'investigació En Ciències De La Salut Germans Trias I Pujol Diagnosis of dementia with lewy bodies
EP3385393A1 (de) * 2017-04-05 2018-10-10 Eckart Schnakenberg In-vitro-verfahren zur diagnose des risikos einer person zur ausbildung eines aerotoxischen syndroms und kit zur durchführung des verfahrens
EP3824290A1 (en) 2018-07-19 2021-05-26 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol In vitro method for the diagnosis of synucleinopathies

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6022683A (en) * 1996-12-16 2000-02-08 Nova Molecular Inc. Methods for assessing the prognosis of a patient with a neurodegenerative disease
GB0323703D0 (en) * 2003-10-09 2003-11-12 Medical Res Council Method
US9175345B2 (en) * 2007-07-31 2015-11-03 Accera, Inc. Use of genomic testing and ketogenic compounds for treatment of reduced cognitive function
EP2360280A1 (en) * 2010-02-24 2011-08-24 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Genetic marker for the diagnosis of dementia with Lewy bodies

Also Published As

Publication number Publication date
CA2789054A1 (en) 2011-09-01
RU2012140458A (ru) 2014-03-27
AU2011220065A1 (en) 2012-10-11
EP2539461A1 (en) 2013-01-02
WO2011104023A1 (en) 2011-09-01
JP2013520185A (ja) 2013-06-06
CN102869786B (zh) 2014-12-24
CL2012002347A1 (es) 2013-12-13
SG183437A1 (en) 2012-09-27
KR20130049771A (ko) 2013-05-14
KR20130043107A (ko) 2013-04-29
US20130101997A1 (en) 2013-04-25
EP2360280A1 (en) 2011-08-24
EP2539461B1 (en) 2015-01-07
ZA201206975B (en) 2015-08-26
IL221313A0 (en) 2012-10-31
MX2012009506A (es) 2012-09-12
NZ602551A (en) 2014-03-28
CN102869786A (zh) 2013-01-09

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Legal Events

Date Code Title Description
B08F Application dismissed because of non-payment of annual fees [chapter 8.6 patent gazette]
B08K Patent lapsed as no evidence of payment of the annual fee has been furnished to inpi [chapter 8.11 patent gazette]
B350 Update of information on the portal [chapter 15.35 patent gazette]