Polyglutamine-containing proteins in neuropsychiatric disorders

G - Physics – 01 – N

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G01N 33/68 (2006.01) C12Q 1/68 (2006.01) G01N 33/577 (2006.01)

Patent

CA 2350557

The present invention relates to dis- eases caused by CAG repeat expansions. More particularly, the present invention re- lates to neuropsychiatric diseases caused by CAG repeat expansions and even more particularly to schizophrenia and major de- pression. In particular, the present inven- tion relates to the identification of at least one protein containing polyglutamine ar- rays, which acts as a marker for the patho- genesis of a neuropsychiatric disorder and more particularly for schizophrenia and ma- jor depression. The present invention fur- ther relates to diagnosis and treatment of neuropsychiatric disorders linked to polyg- lutamine tracts-containing proteins. The present invention further relates to diag- nosis and treatment methods of neuropsy- chiatric disorders based on a targeting of the CAG/CTG repeat expansions encoding a polyglutamine tract. The present inven- tion further provides methods of detecting nucleic acids encoding the polyglutamine tracts in a sample; kits containing nucleic acid probes or ligands of the polyglutamine tract, bio-assays using the nucleic acid sequences, and protein sequences of the present invention or ligands specific thereto to diagnose, assess, or prognose a mammal

L'invention concerne des maladies provoquées par des allongements de répétitions CAG. L'invention concerne plus particulièrement des maladies neuropsychiatriques provoquées par des allongements de répétitions CAG et plus précisément la schizophrénie et la dépression majeure. L'invention concerne également l'identification d'au moins une protéine contenant des réseaux de polyglutamines agissant comme marqueur de la pathogenèse d'un trouble neuropsychiatrique et plus particulièrement de la schizophrénie et de la dépression majeure. L'invention concerne en outre le diagnostic et le traitement des troubles neuropsychiatriques liés aux protéines contenant des séries de polyglutamines, ainsi que le diagnostic et le traitement de troubles neuropsychiatriques fondés sur un ciblage des allongements de répétitions CAG/CGT codant pour une série de polyglutamines. L'invention concerne par ailleurs des procédés de détection d'acides nucléiques codant pour les séries de polyglutamines dans un échantillon, des assortiments contenant des sondes à l'acide nucléique ou des ligands de la série de polyglutamines, des essais biologiques utilisant les séquences d'acides nucléiques et des séquences de protéines ou des ligands spécifiques permettant de diagnostiquer, d'évaluer ou de pronostiquer un trouble neuropsychiatrique lié à la présence de protéines contenant de la polyglutamine chez un mammifère souffrant de cette maladie ou enclin à la contracter.

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