Methods for diagnosing osteoarthritis

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07K 14/47 (2006.01) C12N 15/12 (2006.01) C12Q 1/00 (2006.01) C12Q 1/02 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2703124

Methods are disclosed for assessing risk of developing osteoarthritis. Said methods comprise determining the cellular localizations, blood or synovial fluid concentrations, sumoylation states and post-translational modifications of pituitary homeobox transcription factor 1 (pitx-1) repressor proteins, identifying mutations in genes which encode said proteins and identifying any mutations or post-translational modifications causing the nuclear accumulation or retention of said proteins. Said proteins include prohibifin (PHB-I), prohibitone (PHB-2) and B cell lymphoma-6 transcriptional repressor interacting co-repressor (BCoR).

La présente invention concerne des procédés d'évaluation du risque de développer de l'arthrose, lesdits procédés comprenant les étapes consistant à : déterminer les localisations cellulaires, les concentrations dans le sang ou le liquide synovial, les états de sumoylation et les modifications post-traductionnelles de répresseurs du facteur 1 de transcription de la boîte homéotique pituitaire (pitx-1); identifier les mutations dans les gènes codant lesdits répresseurs; et identifier toute mutation ou modification post-traductionnelle provoquant l'accumulation nucléaire ou la rétention desdits répresseurs. Lesdits répresseurs incluent la prohibitine (PHB-I), la prohibitone (PHB-2) et le corépresseur (BCoR), qui interagit avec le répresseur de la transcription des lymphocytes B de lymphome 6.

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