ES2674053T3 - Diagnóstico de paraplejias espásticas hereditarias (HPS) a través de la identificación de una mutación en el gen o proteína ZFYVE26 - Google Patents

Diagnóstico de paraplejias espásticas hereditarias (HPS) a través de la identificación de una mutación en el gen o proteína ZFYVE26 Download PDF

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Publication number
ES2674053T3
ES2674053T3 ES09728253.7T ES09728253T ES2674053T3 ES 2674053 T3 ES2674053 T3 ES 2674053T3 ES 09728253 T ES09728253 T ES 09728253T ES 2674053 T3 ES2674053 T3 ES 2674053T3
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Prior art keywords
zfyve26
mutation
gene
spastic paraplegia
hereditary spastic
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Active
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ES09728253.7T
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English (en)
Inventor
Giovanni Stevanin
Sylvain Hanein
Amir Boukhris
Cyril Goizet
Elodie Martin
Alexis Brice
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Institut National de la Santé et de la Recherche Médicale
Université de Bordeaux
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Institut National de la Santé et de la Recherche Médicale
Université de Bordeaux
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    • 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
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/04—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with deoxyribosyl as saccharide radical
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • 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
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/38—Pediatrics
    • G01N2800/385—Congenital anomalies

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

Abstract

Un procedimiento ex vivo de diagnóstico o predicción de una paraplejia espástica hereditaria (HSP) en un sujeto, cuyo procedimiento comprende detectar una mutación en el gen ZFYVE26 que indica una paraplejia espástica hereditaria, que resulta en una forma truncada de la proteína ZFYVE26 en una muestra obtenida de dicho sujeto, en el que dicha mutación del gen ZFYVE26 es: - una sustitución seleccionada del grupo que consiste en c.307G>T, c.427G>T, c.1240G>T, c.1477C>T, c.2182C>T, c.4312C>T, c.5422C>T, c.5791-6G>A/r.5791_5792ins5791-4_5791-1, c.5485 -1G>A, c.7128+2T>A/r.6987_7128del, y c.6011G>C, - una eliminación seleccionada del grupo c.2049delT, c.4068_4069delTG, c.5036delT, c.6702_6771del, - una inserción seleccionada del grupo que consiste en c.2331_2332insA, c.6296_6297insT, - una redisposición compleja que es: g.67316025_67319414del/g.67316025_67316026insTCTA/g.67319319_67319414inv que consiste en una eliminación genómica entre el nucleótido 67316025 y 67319414 asociado con una inserción TCTA entre el nucleótido 67316025 y 67316026 e inversión de la secuencia genómica entre el nucleótido 67319319 y 67319414.
ES09728253.7T 2008-04-02 2009-03-31 Diagnóstico de paraplejias espásticas hereditarias (HPS) a través de la identificación de una mutación en el gen o proteína ZFYVE26 Active ES2674053T3 (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP08305079 2008-04-02
EP08305079 2008-04-02
PCT/EP2009/053838 WO2009121897A1 (en) 2008-04-02 2009-03-31 Diagnosis of hereditary spastic paraplegias (hsp) by identification of a mutation in the zfyve26 gene or protein

Publications (1)

Publication Number Publication Date
ES2674053T3 true ES2674053T3 (es) 2018-06-27

Family

ID=39515629

Family Applications (1)

Application Number Title Priority Date Filing Date
ES09728253.7T Active ES2674053T3 (es) 2008-04-02 2009-03-31 Diagnóstico de paraplejias espásticas hereditarias (HPS) a través de la identificación de una mutación en el gen o proteína ZFYVE26

Country Status (4)

Country Link
US (3) US20110117558A1 (es)
EP (1) EP2268837B1 (es)
ES (1) ES2674053T3 (es)
WO (1) WO2009121897A1 (es)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR101889072B1 (ko) 2017-09-15 2018-08-16 한국생명공학연구원 디지털 PCR을 이용한 유전성 강직성 대마비(Hereditary spastic paraplegia, HSP) 관련 유전자 SPG4의 거대결손 검증법
WO2021205028A1 (en) 2020-04-09 2021-10-14 University Of Sheffield Gene therapy treatment
GB202215198D0 (en) 2022-10-14 2022-11-30 Univ Sheffield Gene therapy treatment
CN115501326A (zh) * 2022-10-19 2022-12-23 暨南大学附属第一医院（广州华侨医院） 14-3-3蛋白在制备治疗脊髓损伤修复的药物中的应用

Also Published As

Publication number Publication date
EP2268837B1 (en) 2018-02-07
US20130137096A1 (en) 2013-05-30
WO2009121897A1 (en) 2009-10-08
US9522933B2 (en) 2016-12-20
US20170152562A1 (en) 2017-06-01
US20110117558A1 (en) 2011-05-19
EP2268837A1 (en) 2011-01-05

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