Target point, preparation and method for treating human ADSL deficiency
AssigneeGeneheal Biotechnology Co., Ltd.
InventorXionglei HE
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Abstract
The present invention discloses target point, preparation and method for treating human ADSL deficiency. The present invention established an ADSL deficiency retrieval model in nematode through RNA interference technique, and found that the sole RNA interference with PAICS gene could increase the expression of ADSL gene. Based on the conclusion of nematode model study, it can be foreseen that through interference with PAICS gene expression in ADSL deficient patient, accumulation of SAICAR in patient body fluid will be decreased and thereby reducing damage to cells, achieving the object of treating human ADSL deficiency or relieving symptoms.
Claims29
A composition for the treatment of adenylosuccinatelyase deficiency, comprising a reagent or an oligonucleotide which interferes with the expression of the gene encoding phosphoribosylaminoimidazolesuccinocarboxamidesynthetase/phosphoribosylaminoimidazole carboxylase (PAICS), and/or interferes with the normal function of mRNA of the gene encoding PAICS and/or inactivates the specificity of the PAICS protein.
A method for the treatment of adenylosuccinatelyase deficiency in a subject in need thereof, comprising administering to the subject a therapeutically effective amount of a reagent or a oligonucleotide which interferes with the expression of the gene encoding phosphoribosylaminoimidazolesuccinocarboxamidesynthetase/phosphoribosylaminoimidazole carboxylase (PAICS), and/or interferes with the normal function of mRNA of the gene encoding PAICS and/or inactivates the specificity of the PAICS protein.
A method for relieving the symptoms of adenylosuccinatelyase deficiency in a subject in need thereof, comprising administering to the subject a therapeutically effective amount of a reagent or a oligonucleotide which interferes with the expression of the gene encoding phosphoribosylaminoimidazolesuccinocarboxamidesynthetase/phosphoribosylaminoimidazole carboxylase (PAICS), and/or interferes with the normal function of mRNA of the gene encoding PAICS and/or inactivates the specificity of the PAICS protein.
Dependencies are inferred from the claim text.