BRPI0910097A2 - métodos para triar quanto a um alelo defeituoso de um gene que codifica enzima remediável pela administração de cofator, para detectar uma predisposição a uma deficiência de enzima dependente de cofator, para identificar e/ou caracterizar uma deficiência de enzima dentro uma via metabólica em um paciente, para tratar uma deficiência metabólica de enzima em um paciente, para triar quanto ao risco de uma condição ou doença associadas com o metabolismo de foliato/homocisteína aberrante, para triar quanto ao potencial de resposta quimioterapêutica e para triar quanto à toxidade quimioterapêutica, kit para avaliar deficiências de enzima remediáveis em uma via metabólica, ácido nucleico isolado, arranjo para detectar um alelo defeituoso de um gene na via metabólica do foliato/homocisteína - Google Patents

métodos para triar quanto a um alelo defeituoso de um gene que codifica enzima remediável pela administração de cofator, para detectar uma predisposição a uma deficiência de enzima dependente de cofator, para identificar e/ou caracterizar uma deficiência de enzima dentro uma via metabólica em um paciente, para tratar uma deficiência metabólica de enzima em um paciente, para triar quanto ao risco de uma condição ou doença associadas com o metabolismo de foliato/homocisteína aberrante, para triar quanto ao potencial de resposta quimioterapêutica e para triar quanto à toxidade quimioterapêutica, kit para avaliar deficiências de enzima remediáveis em uma via metabólica, ácido nucleico isolado, arranjo para detectar um alelo defeituoso de um gene na via metabólica do foliato/homocisteína

Info

Publication number
BRPI0910097A2
BRPI0910097A2 BRPI0910097A BRPI0910097A BRPI0910097A2 BR PI0910097 A2 BRPI0910097 A2 BR PI0910097A2 BR PI0910097 A BRPI0910097 A BR PI0910097A BR PI0910097 A BRPI0910097 A BR PI0910097A BR PI0910097 A2 BRPI0910097 A2 BR PI0910097A2
Authority
BR
Brazil
Prior art keywords
enzyme
screen
metabolic pathway
foliate
cofactor
Prior art date
Application number
BRPI0910097A
Other languages
English (en)
Inventor
Jasper Rine
Nicholas Marini
Original Assignee
Univ California
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 Univ California filed Critical Univ California
Publication of BRPI0910097A2 publication Critical patent/BRPI0910097A2/pt

Links

Classifications

    • 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
    • C12Q1/25Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving enzymes not classifiable in groups C12Q1/26 - C12Q1/66
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/18Antipsychotics, i.e. neuroleptics; Drugs for mania or schizophrenia
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/24Antidepressants
    • 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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00Drugs for disorders of the senses
    • A61P27/02Ophthalmic agents
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00Drugs for disorders of the senses
    • A61P27/02Ophthalmic agents
    • A61P27/06Antiglaucoma agents or miotics
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00Antineoplastic agents
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00Drugs for disorders of the blood or the extracellular fluid
    • A61P7/02Antithrombotic agents; Anticoagulants; Platelet aggregation inhibitors
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P9/00Drugs for disorders of the cardiovascular system
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P9/00Drugs for disorders of the cardiovascular system
    • A61P9/10Drugs for disorders of the cardiovascular system for treating ischaemic or atherosclerotic diseases, e.g. antianginal drugs, coronary vasodilators, drugs for myocardial infarction, retinopathy, cerebrovascula insufficiency, renal arteriosclerosis
    • 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
    • C12N15/11DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/52Genes encoding for enzymes or proenzymes
    • 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
    • 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
    • C12Q1/6888Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms
    • C12Q1/6895Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms for plants, fungi or algae
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/82Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving vitamins or their receptors
    • 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
    • C12Q2600/106Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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
    • C12Q2600/142Toxicological screening, e.g. expression profiles which identify toxicity
    • 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
    • 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
    • G01N2333/37Assays involving biological materials from specific organisms or of a specific nature from fungi
    • G01N2333/39Assays involving biological materials from specific organisms or of a specific nature from fungi from yeasts
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/04Endocrine or metabolic disorders

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Chemical & Material Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Public Health (AREA)
  • Biophysics (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Pathology (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Cell Biology (AREA)
  • Mycology (AREA)
  • Food Science & Technology (AREA)
  • Psychiatry (AREA)
  • General Physics & Mathematics (AREA)
  • Ophthalmology & Optometry (AREA)
BRPI0910097A 2008-03-27 2009-03-27 métodos para triar quanto a um alelo defeituoso de um gene que codifica enzima remediável pela administração de cofator, para detectar uma predisposição a uma deficiência de enzima dependente de cofator, para identificar e/ou caracterizar uma deficiência de enzima dentro uma via metabólica em um paciente, para tratar uma deficiência metabólica de enzima em um paciente, para triar quanto ao risco de uma condição ou doença associadas com o metabolismo de foliato/homocisteína aberrante, para triar quanto ao potencial de resposta quimioterapêutica e para triar quanto à toxidade quimioterapêutica, kit para avaliar deficiências de enzima remediáveis em uma via metabólica, ácido nucleico isolado, arranjo para detectar um alelo defeituoso de um gene na via metabólica do foliato/homocisteína BRPI0910097A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US4002008P 2008-03-27 2008-03-27
PCT/US2009/038703 WO2009121044A1 (en) 2008-03-27 2009-03-27 Impaired alleles of genes involved in metabolic pathways and methods for detecting and using the same

Publications (1)

Publication Number Publication Date
BRPI0910097A2 true BRPI0910097A2 (pt) 2015-12-15

Family

ID=41114354

Family Applications (1)

Application Number Title Priority Date Filing Date
BRPI0910097A BRPI0910097A2 (pt) 2008-03-27 2009-03-27 métodos para triar quanto a um alelo defeituoso de um gene que codifica enzima remediável pela administração de cofator, para detectar uma predisposição a uma deficiência de enzima dependente de cofator, para identificar e/ou caracterizar uma deficiência de enzima dentro uma via metabólica em um paciente, para tratar uma deficiência metabólica de enzima em um paciente, para triar quanto ao risco de uma condição ou doença associadas com o metabolismo de foliato/homocisteína aberrante, para triar quanto ao potencial de resposta quimioterapêutica e para triar quanto à toxidade quimioterapêutica, kit para avaliar deficiências de enzima remediáveis em uma via metabólica, ácido nucleico isolado, arranjo para detectar um alelo defeituoso de um gene na via metabólica do foliato/homocisteína

Country Status (12)

Country Link
US (1) US20090281061A1 (pt)
EP (1) EP2276857A4 (pt)
JP (1) JP2011519267A (pt)
KR (1) KR20100134067A (pt)
CN (1) CN102027134A (pt)
AU (1) AU2009228015A1 (pt)
BR (1) BRPI0910097A2 (pt)
CA (1) CA2719733A1 (pt)
IL (1) IL208456A0 (pt)
MX (1) MX2010010476A (pt)
RU (1) RU2010143882A (pt)
WO (1) WO2009121044A1 (pt)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115579056B (zh) * 2022-08-24 2024-05-31 南方医科大学南方医院 一组用于评估精神分裂症分子分型的基因群及其诊断产品和应用

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB9410620D0 (en) * 1994-05-26 1994-07-13 Univ Mcgill cDNA for human mehylenetetrahydrofolate reductase

Also Published As

Publication number Publication date
EP2276857A4 (en) 2012-01-25
WO2009121044A8 (en) 2010-11-04
JP2011519267A (ja) 2011-07-07
KR20100134067A (ko) 2010-12-22
CA2719733A1 (en) 2009-10-01
IL208456A0 (en) 2010-12-30
CN102027134A (zh) 2011-04-20
AU2009228015A1 (en) 2009-10-01
EP2276857A1 (en) 2011-01-26
WO2009121044A1 (en) 2009-10-01
MX2010010476A (es) 2010-11-25
US20090281061A1 (en) 2009-11-12
RU2010143882A (ru) 2012-05-10

Similar Documents

Publication Publication Date Title
Khavari et al. Epigenomic dysregulation in schizophrenia: in search of disease etiology and biomarkers
Vanni et al. Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
Iacobazzi et al. Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool
Sen et al. Lead exposure induces changes in 5-hydroxymethylcytosine clusters in CpG islands in human embryonic stem cells and umbilical cord blood
Toraño et al. Global DNA hypomethylation in cancer: review of validated methods and clinical significance
Ma et al. Specific histone modification responds to arsenic-induced oxidative stress
Miyagawa et al. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
Pal Copper toxicity induced hepatocerebral and neurodegenerative diseases: an urgent need for prognostic biomarkers
Slyskova et al. Both genetic and dietary factors underlie individual differences in DNA damage levels and DNA repair capacity
Fiori et al. Effects of histone modifications on increased expression of polyamine biosynthetic genes in suicide
Ho et al. Effects of methionine synthase and methylenetetrahydrofolate reductase gene polymorphisms on markers of one-carbon metabolism
Swathy et al. Understanding the influence of antipsychotic drugs on global methylation events and its relevance in treatment response
BRPI0714563B8 (pt) métodos para detectar a pré-disposição à ou estágio de um câncer em um indivíduo mamífero, para triagem, identificação ou otimização de um medicamento anti-câncer, para modificação de um gene de mamífero in vitro e para avaliação da eficácia de um medicamento anti-câncer ou medicamento candidato
Abratte et al. Folate intake and the MTHFR C677T genotype influence choline status in young Mexican American women
Greenbaum et al. Support for association of HSPG2 with tardive dyskinesia in Caucasian populations
Ceylan et al. Oxidatively-induced DNA damage and base excision repair in euthymic patients with bipolar disorder
Fiori et al. Using epigenetic tools to investigate antidepressant response
Serizawa et al. Association between PRKCH gene polymorphisms and subcortical silent brain infarction
BRPI1008936B8 (pt) método in vitro para detectar pré-disposição para ou diagnóstico e/ou prognóstico de fibrose hepática ou cirrose ocorrendo em um indivíduo humano
Bach et al. Reduced cellular DNA repair capacity after environmentally relevant arsenic exposure. Influence of Ogg1 deficiency
Rebalka et al. Potential biomarkers of skeletal muscle damage
Gu et al. Smoking, genes encoding dopamine pathway and risk for Parkinson's disease
Marzan et al. Association between REELIN gene polymorphisms (rs7341475 and rs262355) and risk of schizophrenia: An updated meta-analysis
Kim et al. Effect of alcohol consumption on peripheral blood Alu methylation in Korean men
He et al. ITIH family genes confer risk to schizophrenia and major depressive disorder in the Han Chinese population

Legal Events

Date Code Title Description
B08F Application dismissed because of non-payment of annual fees [chapter 8.6 patent gazette]

Free format text: REFERENTE AS 6A E 7A ANUIDADES.

B08K Patent lapsed as no evidence of payment of the annual fee has been furnished to inpi [chapter 8.11 patent gazette]

Free format text: EM VIRTUDE DO ARQUIVAMENTO PUBLICADO NA RPI 2383 DE 06-09-2016 E CONSIDERANDO AUSENCIA DE MANIFESTACAO DENTRO DOS PRAZOS LEGAIS, INFORMO QUE CABE SER MANTIDO O ARQUIVAMENTO DO PEDIDO DE PATENTE, CONFORME O DISPOSTO NO ARTIGO 12, DA RESOLUCAO 113/2013.