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 PDFInfo
- 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
- Authority
- ES
- Spain
- Prior art keywords
- zfyve26
- mutation
- gene
- spastic paraplegia
- hereditary spastic
- 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
Links
- 208000008675 hereditary spastic paraplegia Diseases 0.000 title abstract 5
- 230000035772 mutation Effects 0.000 title abstract 3
- 101000785721 Homo sapiens Zinc finger FYVE domain-containing protein 26 Proteins 0.000 title abstract 2
- 102100026419 Zinc finger FYVE domain-containing protein 26 Human genes 0.000 title abstract 2
- 238000003745 diagnosis Methods 0.000 title 1
- 108090000623 proteins and genes Proteins 0.000 title 1
- 239000002773 nucleotide Substances 0.000 abstract 3
- 125000003729 nucleotide group Chemical group 0.000 abstract 3
- 101150003657 Zfyve26 gene Proteins 0.000 abstract 2
- 238000000034 method Methods 0.000 abstract 2
- AWXGSYPUMWKTBR-UHFFFAOYSA-N 4-carbazol-9-yl-n,n-bis(4-carbazol-9-ylphenyl)aniline Chemical compound C12=CC=CC=C2C2=CC=CC=C2N1C1=CC=C(N(C=2C=CC(=CC=2)N2C3=CC=CC=C3C3=CC=CC=C32)C=2C=CC(=CC=2)N2C3=CC=CC=C3C3=CC=CC=C32)C=C1 AWXGSYPUMWKTBR-UHFFFAOYSA-N 0.000 abstract 1
- 101000837344 Homo sapiens T-cell leukemia translocation-altered gene protein Proteins 0.000 abstract 1
- 102100028692 T-cell leukemia translocation-altered gene protein Human genes 0.000 abstract 1
- 230000037430 deletion Effects 0.000 abstract 1
- 238000012217 deletion Methods 0.000 abstract 1
- 230000008030 elimination Effects 0.000 abstract 1
- 238000003379 elimination reaction Methods 0.000 abstract 1
- 230000037431 insertion Effects 0.000 abstract 1
- 238000003780 insertion Methods 0.000 abstract 1
- 238000006467 substitution reaction Methods 0.000 abstract 1
Classifications
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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
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- 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
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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
- 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
Landscapes
- 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.
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)
| 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 |
| EP4087391A1 (en) | 2020-04-09 | 2022-11-16 | 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 |
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2009
- 2009-03-31 US US12/934,841 patent/US20110117558A1/en not_active Abandoned
- 2009-03-31 ES ES09728253.7T patent/ES2674053T3/es active Active
- 2009-03-31 EP EP09728253.7A patent/EP2268837B1/en active Active
- 2009-03-31 WO PCT/EP2009/053838 patent/WO2009121897A1/en not_active Ceased
-
2012
- 2012-10-31 US US13/664,868 patent/US9522933B2/en active Active
-
2016
- 2016-11-11 US US15/349,005 patent/US20170152562A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| US9522933B2 (en) | 2016-12-20 |
| EP2268837B1 (en) | 2018-02-07 |
| US20110117558A1 (en) | 2011-05-19 |
| EP2268837A1 (en) | 2011-01-05 |
| US20170152562A1 (en) | 2017-06-01 |
| WO2009121897A1 (en) | 2009-10-08 |
| US20130137096A1 (en) | 2013-05-30 |
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