Modulation and detection of a neuronal alternative splicing regulatory network for treatment and diagnosis of neurological disorders
AssigneesThe Governing Council of the University of Toronto, Sinai Health System
InventorsBenjamin J. Blencowe, Mathieu Quesnel-Vallieres, Manuel Irimia, Bushra Raj, Sabine P. Cordes
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Abstract
Methods for treatment and diagnosis of neurological disorders such as autism and autism spectrum disorder are disclosed. Also disclosed are modulators of alternative splicing regulators SRRM4 and/or SRRM3 for treating neurological disorders. Further disclosed are agents that modulate the expression of at least one splice variant for treating neurological disorders. Mouse models of neurological disorders having increased or decreased expression of SRRM4 and/or SRRM3 are also disclosed.
Claims28
A method of treating a neurological disorder or disease or improving neurological function comprising administering a modulator of SRRM4 and/or a modulator of SRRM3 in a subject in need thereof.
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A method of treating a neurological disorder or disease or improving neurological function comprising administering an agent that modulates the expression of at least one microexon splice variant listed in Table 1 in a subject in need thereof.
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A method of detecting and/or screening for a neurological disorder or disease, in a human subject, comprising:
- a. determining a sample neuronal alternative splicing profile from a sample from said subject, said sample profile comprising the level of at least one, optionally at least 5, at least 10, at least 25, at least 50, at least 100, at least 150, at least 200, at least 250, at least 300, or all microexon splice variants from Table 1;
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- b. determining the level of similarity of said sample profile to one or more control profiles,
- wherein (i) a high level of similarity of the sample profile to a neurological disorder or disease-specific control profile;
- (ii) a low level of similarity to a non-neurological disorder or disease control profile;
- and/or (iii) a higher level of similarity to a neurological disorder or disease control profile than to a non-neurological disorder or disease control profile indicates the presence of, or an increased likelihood of a neurological disorder or disease.
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A mouse or a mouse cell, wherein the mouse or mouse cell has decreased expression of at least one copy of the gene encoding SRRM4 and/or at least one copy of the gene encoding SRRM3 compared to a wild type control mouse or mouse cell.
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Dependencies are inferred from the claim text.