WO2002027022A3 - Methods for diagnosing and treating autosomal dominant optic atrophy - Google Patents

Methods for diagnosing and treating autosomal dominant optic atrophy Download PDF

Info

Publication number
WO2002027022A3
WO2002027022A3 PCT/GB2001/004284 GB0104284W WO0227022A3 WO 2002027022 A3 WO2002027022 A3 WO 2002027022A3 GB 0104284 W GB0104284 W GB 0104284W WO 0227022 A3 WO0227022 A3 WO 0227022A3
Authority
WO
WIPO (PCT)
Prior art keywords
gene
opa1
methods
autosomal dominant
optic atrophy
Prior art date
Application number
PCT/GB2001/004284
Other languages
French (fr)
Other versions
WO2002027022A2 (en
Inventor
Shomi Bhattacharya
Bernd Wissinger
Christiana Alexander
Marcela Votruba
Original Assignee
Univ London
Univ Eye Hospital
Shomi Bhattacharya
Bernd Wissinger
Christiana Alexander
Marcela Votruba
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 London, Univ Eye Hospital, Shomi Bhattacharya, Bernd Wissinger, Christiana Alexander, Marcela Votruba filed Critical Univ London
Priority to AU2001290103A priority Critical patent/AU2001290103A1/en
Publication of WO2002027022A2 publication Critical patent/WO2002027022A2/en
Publication of WO2002027022A3 publication Critical patent/WO2002027022A3/en

Links

Classifications

    • 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
    • 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
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/16—Ophthalmology

Landscapes

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

Abstract

The invention relates generally to the OPA1 gene, including variants thereof, as well as their transcripts and gene products. OPA1 is involved in the disease process of autosomal dominant optic atrophy. The present invention also relates to methods of screening for and detection of carriers of a defective OPA1 gene, diagnosis of a defective OPA1 gene, prenatal OPA1 gene defect screening and detection, gene therapy utilising recombinant technologies and drug therapy using the information derived from the gene, protein, and the metabolic function of the protein.
PCT/GB2001/004284 2000-09-26 2001-09-26 Methods for diagnosing and treating autosomal dominant optic atrophy WO2002027022A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001290103A AU2001290103A1 (en) 2000-09-26 2001-09-26 Methods for diagnosing and treating autosomal dominant optic atrophy

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GBGB0023555.6A GB0023555D0 (en) 2000-09-26 2000-09-26 Improvements in and relating to treatments for eye disease
GB0023555.6 2000-09-26

Publications (2)

Publication Number Publication Date
WO2002027022A2 WO2002027022A2 (en) 2002-04-04
WO2002027022A3 true WO2002027022A3 (en) 2003-08-28

Family

ID=9900143

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2001/004284 WO2002027022A2 (en) 2000-09-26 2001-09-26 Methods for diagnosing and treating autosomal dominant optic atrophy

Country Status (3)

Country Link
AU (1) AU2001290103A1 (en)
GB (1) GB0023555D0 (en)
WO (1) WO2002027022A2 (en)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007134818A2 (en) 2006-05-18 2007-11-29 Univ Muenchen L Maximilians Method for diagnosing mitochondrial dysfunction
MX336800B (en) * 2009-04-28 2016-02-02 Edison Pharmaceuticals Inc Treatment of leber's hereditary optic neuropathy and dominant optic atrophy with tocotrienol quinones.
EP2924127A1 (en) 2014-03-27 2015-09-30 Université Paul Sabatier Toulouse III Method and kit for prognosis of OPA1 gene induced diseases, e.g. Kjers optic atrophy.

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002000878A2 (en) * 2000-06-26 2002-01-03 Universite Paul Sabatier Human msp1 mitochondrial dynamin, its msp1-x isoforms, and their therapeutic use

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002000878A2 (en) * 2000-06-26 2002-01-03 Universite Paul Sabatier Human msp1 mitochondrial dynamin, its msp1-x isoforms, and their therapeutic use

Non-Patent Citations (7)

* Cited by examiner, † Cited by third party
Title
ALEXANDER CHRISTIANE ET AL: "OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.", NATURE GENETICS, vol. 26, no. 2, 1 October 2000 (2000-10-01), pages 211 - 215, XP002238681, ISSN: 1061-4036 *
DATABASE EBI [online] 1 July 1997 (1997-07-01), YUAN X.J., XP002238683, Database accession no. o08681 *
DATABASE EBI [online] 10 April 1998 (1998-04-10), OHARA O. ET AL., XP002238682, Database accession no. AB011139 *
DELETTRE CECILE ET AL: "Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.", NATURE GENETICS, vol. 26, no. 2, 1 October 2000 (2000-10-01), pages 207 - 210, XP002238680, ISSN: 1061-4036 *
JONASDOTTIR ASLAUG ET AL: "Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig.", HUMAN GENETICS, vol. 99, no. 1, 1997, pages 115 - 120, XP002217491, ISSN: 0340-6717 *
NAGASE T. ET AL.: "Prediction of the coding sequences of unidentified human genes. IX. the complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro", DNA RESEARCH, vol. 5, pages 31 - 39, XP000878819 *
YUAN X.J. ET AL.: "A novel gene in the rat genome", RAT GENOME, vol. 2, 1996, pages 150 - 153, XP001146985 *

Also Published As

Publication number Publication date
WO2002027022A2 (en) 2002-04-04
AU2001290103A1 (en) 2002-04-08
GB0023555D0 (en) 2000-11-08

Similar Documents

Publication Publication Date Title
ATE312192T1 (en) METHOD FOR THE FERMENTATIVE PRODUCTION OF AMINO ACIDS AND AMINO ACID DERIVATIVES OF THE PHOSPHOGLYCERATE FAMILY
AU2002237296A1 (en) Conformationally abnormal forms of tau proteins and specific antibodies thereto
WO2006125227A3 (en) Fibroblast activation protein inhibitor compounds and methods
WO1998014596A3 (en) Disease associated protein tyrosine phosphatases
WO2003102016A3 (en) Amyloid peptide inactivating enzyme to treat alzheimer's disease
WO1998026054A3 (en) Pyk2 related products and methods
WO2000043493A8 (en) Metalloproteinase adam 22
WO2002027022A3 (en) Methods for diagnosing and treating autosomal dominant optic atrophy
WO2004020668A3 (en) Method for treating synovial sarcoma
AU2003240631A8 (en) A t cell subpopulation regulating gut immunity
WO2002101039A1 (en) Method of testing drug for treating or preventing diseases such as hyperlipemia
US20230016005A1 (en) Brain function regulating agent, and food or beverage product containing same
WO2004033485A3 (en) Nucleic acid supported protein complementation
WO1999058098A8 (en) HUMAN ANTITHROMBIN IIIs AND METHODS RELATED THERETO
CA3137533A1 (en) Aging progression suppressing agent, and food or beverage product comprising same
WO1999063094A3 (en) Nucleotide and protein sequences of gpr1 and methods based thereon
WO2001049879A3 (en) Methods for comparing gene expression levels or patterns in normal or tumor cells
WO1999042619A3 (en) Association of the serotonin transport (htt) gene with cardiovascular disease and longevity
SE0002189D0 (en) New method and assay
WO2001064875A3 (en) Human transporter genes and proteins encoded thereby
WO2001066709A3 (en) Sphingomyelinase enzymes and uses relating thereto
WO2001077380A3 (en) Method for predicting predisposition to a disease associated with mutations in a rpgr gene
AU2002314114A1 (en) Genes and proteins for prevention, prediction, diagnosis, prognosis and treatment of chronic lung disease
EP1416048A4 (en) Nucleic acid participating in the formation of presenilin-2-gene exon 5-;defective splicing variant
WO2004033723A3 (en) Neurodegenerative disease-associated gene

Legal Events

Date Code Title Description
AK Designated states

Kind code of ref document: A2

Designated state(s): AE AG AL AM AT AU AZ BA BB BG BR BY BZ CA CH CN CO CR CU CZ DE DK DM DZ EC EE ES FI GB GD GE GH GM HR HU ID IL IN IS JP KE KG KP KR KZ LC LK LR LS LT LU LV MA MD MG MK MN MW MX MZ NO NZ PH PL PT RO RU SD SE SG SI SK SL TJ TM TR TT TZ UA UG US UZ VN YU ZA ZW

AL Designated countries for regional patents

Kind code of ref document: A2

Designated state(s): GH GM KE LS MW MZ SD SL SZ TZ UG ZW AM AZ BY KG KZ MD RU TJ TM AT BE CH CY DE DK ES FI FR GB GR IE IT LU MC NL PT SE TR BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG

121 Ep: the epo has been informed by wipo that ep was designated in this application
REG Reference to national code

Ref country code: DE

Ref legal event code: 8642

122 Ep: pct application non-entry in european phase
NENP Non-entry into the national phase

Ref country code: JP