HRP20141019T1 - Tbc1d1 kao marker u odgovoru na masnoä†e u prehrani i pretilosti - Google Patents
Tbc1d1 kao marker u odgovoru na masnoä†e u prehrani i pretilosti Download PDFInfo
- Publication number
- HRP20141019T1 HRP20141019T1 HRP20141019AT HRP20141019T HRP20141019T1 HR P20141019 T1 HRP20141019 T1 HR P20141019T1 HR P20141019A T HRP20141019A T HR P20141019AT HR P20141019 T HRP20141019 T HR P20141019T HR P20141019 T1 HRP20141019 T1 HR P20141019T1
- Authority
- HR
- Croatia
- Prior art keywords
- tbc1d1
- activity
- diabetes
- obesity
- acid sequence
- Prior art date
Links
- 208000008589 Obesity Diseases 0.000 title claims 6
- 206010012601 diabetes mellitus Diseases 0.000 title claims 6
- 235000020824 obesity Nutrition 0.000 title claims 6
- 239000003550 marker Substances 0.000 title 1
- 101000891620 Homo sapiens TBC1 domain family member 1 Proteins 0.000 claims 21
- 102100040238 TBC1 domain family member 1 Human genes 0.000 claims 21
- 238000000034 method Methods 0.000 claims 9
- 230000004071 biological effect Effects 0.000 claims 7
- 230000000694 effects Effects 0.000 claims 7
- 125000003275 alpha amino acid group Chemical group 0.000 claims 6
- 229920001184 polypeptide Polymers 0.000 claims 6
- 108090000765 processed proteins & peptides Proteins 0.000 claims 6
- 102000004196 processed proteins & peptides Human genes 0.000 claims 6
- 241000124008 Mammalia Species 0.000 claims 5
- 102000013446 GTP Phosphohydrolases Human genes 0.000 claims 4
- 108091006109 GTPases Proteins 0.000 claims 4
- 101150075351 Tbc1d1 gene Proteins 0.000 claims 3
- 238000004458 analytical method Methods 0.000 claims 3
- 239000004615 ingredient Substances 0.000 claims 3
- 230000037430 deletion Effects 0.000 claims 2
- 238000012217 deletion Methods 0.000 claims 2
- 108090000623 proteins and genes Proteins 0.000 claims 2
- 102000004169 proteins and genes Human genes 0.000 claims 2
- 238000012216 screening Methods 0.000 claims 2
- 101100480747 Homo sapiens TBC1D1 gene Proteins 0.000 claims 1
- 102000008394 Immunoglobulin Fragments Human genes 0.000 claims 1
- 108010021625 Immunoglobulin Fragments Proteins 0.000 claims 1
- 101100480748 Mus musculus Tbc1d1 gene Proteins 0.000 claims 1
- 108091034117 Oligonucleotide Proteins 0.000 claims 1
- 108010067902 Peptide Library Proteins 0.000 claims 1
- 108020004459 Small interfering RNA Proteins 0.000 claims 1
- 150000001413 amino acids Chemical class 0.000 claims 1
- 239000000074 antisense oligonucleotide Substances 0.000 claims 1
- 238000012230 antisense oligonucleotides Methods 0.000 claims 1
- 239000012472 biological sample Substances 0.000 claims 1
- 239000003795 chemical substances by application Substances 0.000 claims 1
- 235000013367 dietary fats Nutrition 0.000 claims 1
- 239000003814 drug Substances 0.000 claims 1
- 229940079593 drug Drugs 0.000 claims 1
- 239000013604 expression vector Substances 0.000 claims 1
- 239000012634 fragment Substances 0.000 claims 1
- 238000009396 hybridization Methods 0.000 claims 1
- 239000003112 inhibitor Substances 0.000 claims 1
- 230000002452 interceptive effect Effects 0.000 claims 1
- 230000004777 loss-of-function mutation Effects 0.000 claims 1
- 108020004999 messenger RNA Proteins 0.000 claims 1
- 108091033319 polynucleotide Proteins 0.000 claims 1
- 102000040430 polynucleotide Human genes 0.000 claims 1
- 239000002157 polynucleotide Substances 0.000 claims 1
- 238000004445 quantitative analysis Methods 0.000 claims 1
- 238000003753 real-time PCR Methods 0.000 claims 1
- 230000001105 regulatory effect Effects 0.000 claims 1
- 239000000523 sample Substances 0.000 claims 1
- 238000012163 sequencing technique Methods 0.000 claims 1
- 210000002027 skeletal muscle Anatomy 0.000 claims 1
- 230000009261 transgenic effect Effects 0.000 claims 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
- 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
- C12Q2600/158—Expression markers
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- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
Claims (9)
1. Metoda dijagnoze pretilosti ili dijabetesa ili povećanog rizika od pretilosti ili dijabetesa u sisavaca sastoji se od analize biološke aktivnosti i/ili ekspresije TBC1D1 u biološkom uzorku sakupljenom od sisavca kojem treba postaviti dijagnozu, pri čemu su gubitak mutacije funkcija u RAB specifičnoj GTP-azi koja aktivira TBC domenu u genu za TBC1D1, ili nedostatak ili smanjena biološka aktivnost TBC1D1 u dotičnom sisavcu indikativi za nedostatak ili smanjeni rizik od pretilosti ili dijabetesa u dotičnom sisavcu, pri čemu je navedena aktivnost TBC1D1 aktivnost RAB specifične GTP-aze koja aktivira TBC domenu.
2. Metoda u skladu s patentnim zahtjevom 1, pri čemu su pretilost ili dijabetes povezani s masnoćama u prehrani.
3. Metoda u skladu s bilo kojim patentnim zahtjevom 1 ili 2, pri čemu dijagnoze podrazumijevaju uporabu TBC1D1 specifičnih protutijela, analizu hibridizacijom, kvantitativni PCR, analizu mRNA, kvantitativnu analizu količine proteina TBC1D1, sekvencioniranje lokusa TBC1D1 i/ili analizu aktivnosti TBC1D1 u izuzetom uzorku.
4. Metoda u skladu s bilo kojim patentnim zahtjevom od 1 do 3, pri čemu se TBC1D1 negativno regulira najmanje tri puta u skeletnom mišiću.
5. Metoda u skladu s bilo kojim patentnim zahtjevom od 1 do 4, pri čemu gen za TBC1D1 sadrži 7 bp deleciju u eksonu 18 u mišjem genu za TBC1D1 ili homolognu deleciju u humanom genu za TBC1D1, što odgovara A4048-T4054 u SEQ ID NO: 3.
6. Metoda identifikacije sastojka koji modulira biološku aktivnost TBC1D1 u stanici, a koja se sastoji od koraka:
a) kontaktiranja stanično eksprimiranim TBC1D1 iz stanice s najmanje jednim potencijalno interaktivnim sastojkom i
b) mjerenja nedostatka ili smanjene biološke aktivnosti TBC1D1 u izuzetoj stanici, pri čemu je dotična biološka aktivnost TBC1D1 aktivnost RAB specifične GTP-aze koja aktivira TBC domenu.
7. Metoda u skladu s patentnim zahtjevom 6, pri čemu je dotični sastojak identificiran kao inhibitor biološke aktivnosti TBC1D1 u izuzetoj stanici.
8. Metoda u skladu s patentnim zahtjevom 7, pri čemu je dotični sastojak odabran iz biblioteke peptida, kombinatorne biblioteke, ekstrakta stanica, osobito ekstrakta biljne stanice, „niskomolekularanog lijeka“, protutijela ili fragmenta protutijela, protusmislenog oligonukleotida, siRNK, proteina i/ili proteinskog fragmenta, osobito protutijela koje prepoznaje sekvencu aminokiselina TGQPSAPGPRPMRKS.
9. Upotreba stanica koja je transformirana vektorom ekspresije koji sadrži polinukleotid sastavljen od polipeptida odabranog od
a) polipeptida kodiranog s SEQ ID NO: 3 ili 4,
b) polipeptida sa sekvencom aminokiselina s 90%-tnom ili većom homologijom i sekvencom aminokiselina SEQ ID NO: 1 ili 2; koji pokazuje aktivnost TBC1D1,
c) polipeptida sa sekvencom aminokiselina u kojoj je 1 do 10 aminokiselina izbrisano, nadomješteno, i/ili dodano u sekvencu aminokiselina prema SEQ ID NO: 1 ili 2; koji pokazuje aktivnost TBC1D1, i
d) polipeptida sa sekvencom aminokiselina SEQ ID NO: 1 ili 2,
pri čemu dotična stanica eksprimira navedni polipeptid, ili nehumani transgenski TBC1D1 prekomjerne ekspresije iz sisavca i/ili s nosačem strukture TBC1D1 genskog izvjestitelja,
pri čemu je navedena biološka aktivnost TBC1D1 aktivnost RAB specifične GTP-aze koja aktivira TBC domenu
kao alat probira u metodi za probir sredstva za liječenje ili sprječavanje pretilosti ili dijabetesa u skladu s bilo kojim patentnim zahtjevom od 6 do 8.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| EP07007072A EP1978105A1 (en) | 2007-04-04 | 2007-04-04 | TBC1D1 as a marker in the response to dietary fat and obesity |
| PCT/EP2008/002713 WO2008122422A1 (en) | 2007-04-04 | 2008-04-04 | Tbc1d1 as a marker in the response to dietary fat and obesity |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HRP20141019T1 true HRP20141019T1 (hr) | 2014-12-19 |
Family
ID=38294144
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HRP20141019AT HRP20141019T1 (hr) | 2007-04-04 | 2014-10-23 | Tbc1d1 kao marker u odgovoru na masnoä†e u prehrani i pretilosti |
Country Status (5)
| Country | Link |
|---|---|
| EP (2) | EP1978105A1 (hr) |
| DK (1) | DK2129801T3 (hr) |
| HR (1) | HRP20141019T1 (hr) |
| SI (1) | SI2129801T1 (hr) |
| WO (1) | WO2008122422A1 (hr) |
Families Citing this family (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9044458B2 (en) | 2010-08-09 | 2015-06-02 | The Johns Hopkins University | Inhibition of tat activating regulatory DNA-binding protein 43 |
| KR101781200B1 (ko) * | 2015-06-26 | 2017-09-22 | 차의과학대학교 산학협력단 | 비만 진단용 마커 tm4sf19 및 이를 이용한 방법 |
Family Cites Families (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2002099140A1 (en) * | 2001-06-05 | 2002-12-12 | Exelixis, Inc. | GLRAs AS MODIFIERS OF THE p53 PATHWAY AND METHODS OF USE |
| EP1434876A4 (en) * | 2001-09-11 | 2005-05-25 | Univ Colorado Regents | CREATING AN EXPRESSION PROFILE IN THE INTACT HUMAN HEART |
-
2007
- 2007-04-04 EP EP07007072A patent/EP1978105A1/en not_active Withdrawn
-
2008
- 2008-04-04 SI SI200831307T patent/SI2129801T1/sl unknown
- 2008-04-04 WO PCT/EP2008/002713 patent/WO2008122422A1/en active Application Filing
- 2008-04-04 DK DK08748870.6T patent/DK2129801T3/da active
- 2008-04-04 EP EP08748870.6A patent/EP2129801B1/en active Active
-
2014
- 2014-10-23 HR HRP20141019AT patent/HRP20141019T1/hr unknown
Also Published As
| Publication number | Publication date |
|---|---|
| EP2129801A1 (en) | 2009-12-09 |
| WO2008122422A1 (en) | 2008-10-16 |
| EP2129801B1 (en) | 2014-08-06 |
| SI2129801T1 (sl) | 2014-12-31 |
| DK2129801T3 (da) | 2014-11-03 |
| EP1978105A1 (en) | 2008-10-08 |
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