WO2012042020A3 - Glyscosylation markers for the diagnosis of maturity onset diabetes of the young - Google Patents

Glyscosylation markers for the diagnosis of maturity onset diabetes of the young Download PDF

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Publication number
WO2012042020A3
WO2012042020A3 PCT/EP2011/067112 EP2011067112W WO2012042020A3 WO 2012042020 A3 WO2012042020 A3 WO 2012042020A3 EP 2011067112 W EP2011067112 W EP 2011067112W WO 2012042020 A3 WO2012042020 A3 WO 2012042020A3
Authority
WO
WIPO (PCT)
Prior art keywords
young
diagnosis
glyscosylation
markers
onset diabetes
Prior art date
Application number
PCT/EP2011/067112
Other languages
French (fr)
Other versions
WO2012042020A2 (en
Inventor
Harry Campbell
Igor Rudan
Alan F. Wright
Jayesh Jagunnathan Kattla
Pauline Rudd
Gordan Lauc
Original Assignee
The University Court Of The University Of Edinburgh
National Institute for Bioprocessing Research and Training Limited
Genos Ltd
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 The University Court Of The University Of Edinburgh, National Institute for Bioprocessing Research and Training Limited, Genos Ltd filed Critical The University Court Of The University Of Edinburgh
Publication of WO2012042020A2 publication Critical patent/WO2012042020A2/en
Publication of WO2012042020A3 publication Critical patent/WO2012042020A3/en

Links

Classifications

    • 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
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893Chemical 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
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2400/00Assays, e.g. immunoassays or enzyme assays, involving carbohydrates
    • G01N2400/10Polysaccharides, i.e. having more than five saccharide radicals attached to each other by glycosidic linkages; Derivatives thereof, e.g. ethers, esters
    • 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
    • G01N2800/042Disorders of carbohydrate metabolism, e.g. diabetes, glucose metabolism

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Cell Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

A method for diagnosing Maturity-Onset Diabetes of the Young (MODY) in a subject is provided. The method comprises providing a glycan- containing test sample from the subject; determining one or more levels of fucosylation of the glycans in the test sample; comparing the one or more levels of fucosylation with one or more reference values; and providing a diagnosis based on said comparison. This method may be used to distinguish HNF1A-MODY or HNF4A-MODY from other types of diabetes such that the correct treatment may be prescribed for the subject.
PCT/EP2011/067112 2010-09-30 2011-09-30 Glyscosylation markers for the diagnosis of maturity onset diabetes of the young WO2012042020A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GBGB1016464.8A GB201016464D0 (en) 2010-09-30 2010-09-30 Glycosylation marker for the diagnosis of mody
GB1016464.8 2010-09-30

Publications (2)

Publication Number Publication Date
WO2012042020A2 WO2012042020A2 (en) 2012-04-05
WO2012042020A3 true WO2012042020A3 (en) 2012-06-21

Family

ID=43243295

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2011/067112 WO2012042020A2 (en) 2010-09-30 2011-09-30 Glyscosylation markers for the diagnosis of maturity onset diabetes of the young

Country Status (2)

Country Link
GB (1) GB201016464D0 (en)
WO (1) WO2012042020A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN110747270A (en) * 2019-11-05 2020-02-04 福州福瑞医学检验实验室有限公司 DNA library for detecting adult diabetes pathogenic gene for diagnosing juvenile onset and application thereof

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
FERNANDO M. A. GIUFFRIDA ET AL: "Genetic and clinical characteristics of maturity-onset diabetes of the young", DIABETES, OBESITY AND METABOLISM, vol. 7, no. 4, 1 July 2005 (2005-07-01), pages 318 - 326, XP055013690, ISSN: 1462-8902, DOI: 10.1111/j.1463-1326.2004.00399.x *
K. R. OWEN ET AL: "Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations", DIABETES CARE, vol. 33, no. 9, 1 September 2010 (2010-09-01), pages 1919 - 1924, XP055013755, ISSN: 0149-5992, DOI: 10.2337/dc10-0288 *
LAUC GORDAN ET AL: "Genomics Meets Glycomics-The First GWAS Study of Human N-Glycome Identifies HNF1 alpha as a Master Regulator of Plasma Protein Fucosylation", PLOS GENETICS, vol. 6, no. 12, E1001256, December 2010 (2010-12-01), pages 1 - 14, XP002664931 *

Also Published As

Publication number Publication date
GB201016464D0 (en) 2010-11-17
WO2012042020A2 (en) 2012-04-05

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