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METHOD FOR THE DIAGNOSIS OF MULTIPLE ESCLEROSISCM Patents

Índice de la ficha

Updated at
24/07/2026
Numero publicacion
WO.2026037834.A1
Fecha publicacion
19/02/2026
Numero solicitud
WO2025EP73132
Fecha presentacion
12/08/2025

En detalle

Resumen

The present invention relates to a method for diagnosis of Multiple Sclerosis (MS) and a method for the prognosis of MS, wherein said methods comprise detecting an isoform of TAF1 in a biological sample. The present invention further relates to a method for the screening an active compound for treating and/or preventing multiple sclerosis.

Reivindicaciones

CLAIMS 1 . An in vitro method for diagnosing multiple sclerosis in a subject that comprises: a) detecting an isoform of the TATA-box binding protein associated factor 1 (TAF1 ) as established in SEQ ID NO: 1 , or an isoform of the corresponding mRNA, in a biological sample from a subject, wherein i) the isoform of SEQ ID NO: 1 comprises at least one deletion from residues: 1709, 1724, 1760, 1764, 1765, 1774, 1775, 1776, 1777, 1787, 1788, 1793, 1800, 1802, 1803, 1804, 1820, 1821 , 1825, 1838, 1839, 1840, 1841 , 1845, 1871 , 1880, 1882, 1883, 1884, 1889 to residue 1893 of SEQ ID NO: 1 , or ii) the isoform of the mRNA encodes the isoform i) of SEQ ID NO: 1 , wherein the presence of the isoform i) or the presence of the isoform ii) indicates that the subject suffers from, or is at risk of suffering from, multiple sclerosis. 2. The method according to claim 1 , wherein the isoform i) comprises the deletion from 1775 to residue 1893 of the sequence SEQ ID NO: 1 . 3. The method according to claim 1 , wherein the isoform i) comprises the deletion from 1777 to residue 1893 of the sequence SEQ ID NO: 1. 4. The method according to claim 1 , wherein the isoform i) comprises the deletion from 1803 to residue 1893 of the sequence SEQ ID NO: 1. 5. The method according to claim 1 , wherein the isoform i) comprises the deletion from 1840 to residue 1893 of the sequence SEQ ID NO: 1. 6. The method according to claim 1 , wherein the isoform i) comprises the deletion from 1841 to residue 1893 of the sequence SEQ ID NO: 1 . 7. The method according to claim 1 , wherein the isoform i) comprises the deletion from 1883 to residue 1893 of the sequence SEQ ID NO: 1. 8. The method according to claim 1 , wherein the isoform comprises the sequence SEQ ID NO: 2. 9. The method according to any one of claims 1 to 8, where in the step a) further comprises quantifying the expression levels of at least one biomarker selected from the list consisting of Ctsb, Atp13a2, C1 qc, Ina, C1 qa, C1 qb, H2-K1 , B2m, C4b, H2-D1 , Oasl2, 1117rb, Ifit3, Oas2, Spp1 , Gfap, Oasl a, Cd52, Serpina3n, Ccl4, CxcH O, Cst7, Klk6, Naaladl2, Phex, Ptgds, Hapln2, Anin, Ninj2, Enpp6, II33, Padi2, Trim59, Tppp3, Galnt6 and Abca8b, wherein: - the increased expression levels of at least one biomarker selected from Ctsb, Atp13a2, C1 qc, Ina, C1qa, C1 qb, H2-K1 , B2m, C4b, H2-D1 , Oasl2, 1117rb, Ifit3, Oas2, Spp1 , Gfap, Oasl a, Cd52, Serpina3n, Ccl4, CxcH O and Cst7 with respect to a reference value, or - the decreased expression levels of at least one biomarker selected from Klk6, Naaladl2, Phex, Ptgds, Hapln2, Anin, Ninj2, Enpp6, 1133, Padi2, Trim59, Tppp3, Galnt6 and Abca8b with respect to a reference value, indicates that the subject suffers from that the subject suffers from, or is at risk of suffering from, multiple sclerosis. 10. An in vitro method for the prognosis of multiple sclerosis in a subject that suffers from primary progressive multiple sclerosis (PPMS) or secondary progressive multiple sclerosis (SPMS) that comprises: a) detecting an isoform of the TAF1 as established in SEQ ID NO: 1 , or an isoform of the corresponding mRNA, in a biological sample from a subject, wherein i) the isoform of SEQ ID NO: 1 comprises at least one deletion from residues: 1709, 1724, 1760, 1764, 1765, 1774, 1775, 1776, 1777, 1787, 1788, 1793, 1800, 1802, 1803, 1804, 1820, 1821 , 1825, 1838, 1839, 1840, 1841 , 1845, 1871 , 1880, 1882, 1883, 1884, 1889 to residue 1893 of SEQ ID NO: 1 , or ii) the isoform of the mRNA encodes the isoform i) of SEQ ID NO: 1 ; b) calculating the abundance or concentration of isoform at step a) with a predetermined reference value for the same biological marker; wherein the abundance or concentration of the isoform i) or the isoform ii) indicates that the subject suffers poor prognosis for primary progressive multiple sclerosis (PPMS) or secondary progressive multiple sclerosis (SPMS). 1 1. The method according to claim 10, wherein the isoform i) comprises the deletion from 1788 to residue 1893 of the sequence SEQ ID NO: 1 . 12. The method according to claim 10, wherein the isoform i) comprises the deletion from 1821 to residue 1893 of the sequence SEQ ID NO: 1 . 13. The method according to claim 10, wherein the isoform comprises the sequence SEQ ID NO: 2. 14. A method for screening of an active compound for treating and/or preventing multiple sclerosis that comprises: a) administering a potentially active compound for the treatment and/or prevention of multiple sclerosis to a cell or a tissue that expresses an isoform of the TAF1 as established in SEQ ID NO: 1 that comprises at least one deletion from residues: 1709, 1724, 1760, 1764, 1765, 1774, 1775, 1776, 1777, 1787, 1788, 1793, 1800, 1802, 1803, 1804, 1820, 1821 , 1825, 1838, 1839, 1840, 1841 , 1845, 1871 , 1880, 1882, 1883, 1884, 1889 to residue 1893 of SEQ ID NO: 1 , b) evaluating the change in the gene expression, phenotype change and/or histological change of the cell, tissue or non-human animal model in response to the potentially active compound. 15. The method according to claim 14 wherein in step a) the isoform comprises the sequence SEQ ID NO: 2. 16. The method according to claim 14 wherein in step a) the isoform, comprises the sequence SEQ ID NO: 3.

Etiquetas

Inventores
Lucas Lozano Jose JavierRodriguez Lopez ClaudiaHernandez Hernandez Ivo
Solicitantes
Consejo Superior de Investigaciones CientíficasConsejo Superior de Investigaciones Cientificas (CConsorcio Centro de Investigación Biomédica en RedUniversidad Autónoma de Madrid
Clasificacion ipc
C12Q 1/ 6883 A IG01N 33/ 00 A I
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