US 11,866,783 B2
Extracellular mRNA markers of muscular dystrophies in human urine
Thurman Wheeler, Boston, MA (US); Xandra O. Breakefield, Newton Center, MA (US); and Leonora Balaj, Charlestown, MA (US)
Assigned to The General Hospital Corporation, Boston, MA (US)
Appl. No. 16/318,658
Filed by The General Hospital Corporation, Boston, MA (US)
PCT Filed Jul. 21, 2017, PCT No. PCT/US2017/043348
§ 371(c)(1), (2) Date Jan. 17, 2019,
PCT Pub. No. WO2018/017991, PCT Pub. Date Jan. 25, 2018.
Claims priority of provisional application 62/365,139, filed on Jul. 21, 2016.
Prior Publication US 2019/0284628 A1, Sep. 19, 2019
Int. Cl. C12Q 1/68 (2018.01); C07H 21/04 (2006.01); C12Q 1/6883 (2018.01); C12Q 1/6865 (2018.01); G01N 33/50 (2006.01)
CPC C12Q 1/6883 (2013.01) [C12Q 1/6865 (2013.01); G01N 33/50 (2013.01); C12Q 2600/106 (2013.01); C12Q 2600/156 (2013.01)] 3 Claims
OG exemplary drawing
 
1. A method, comprising:
obtaining a sample comprising urine from a subject who has, or is suspected to have, myotonic dystrophy type 1 (DM1);
isolating extracellular mRNA in the sample;
performing an assay to detect isoforms of mRNAs in the sample, wherein the mRNAs are:
(i) transcripts for muscleblind like splicing regulator 2 (MBNL2); SOS Ras/Rac guanine nucleotide exchange factor 1 (SOS1); cytoplasmic linker associated protein 1 (CLASP1);
muscleblind like splicing regulator 1 (MBNL1); and mitogen-activated protein kinase kinase kinase 4 (MAP3K4), or
(ii) transcripts for MBNL2, MBNL1, SOS1, CLASP1, MAP3K4, and insulin receptor (INSR).