公开(公告)号：WO2008127317A2

公开(公告)日：2008-10-23

申请号：PCT/US2007024543

申请日：2007-11-29

Applicant: ROSALIND FRANKLIN UNIVERSITY O

Inventor： POTASHKIN JUDITH ANN

IPC: C12Q1/68 ,  C07H21/02

CPC classification number: C12Q1/6883 ,  C12Q2600/158

Abstract: The present invention discloses a method to discover biomarkers indicative of an idiopathic neurodegenerative disease in a mammalian subject and biomarkers indicative of an idiopathic neurodegenerative disease in the mammalian subject. The biomarker comprises a splice variant mRNA of a precursor-messenger RNA (pre-mRNA) transcript of a gene in the mammalian subject wherein (a) the ratio of the amount of the splice variant mRNA to the amount of another splice variant mRNA of the same precursor-messenger RNA (pre-mRNA) transcript of the same gene is different in the mammalian subject having the neurodegenerative disease as compared to that of a control without the disease; or (b) the ratio of the amount of the splice variant mRNA to the amount of total 18S RNA is different in the mammalian subject having the neurodegenerative disease as compared to that of a control without the disease. The biomarkers can be used to diagnose neurodegenerative diseases in the subject.

Abstract translation: 本发明公开了一种在哺乳动物受试者中发现指示特发性神经变性疾病的生物标志物的方法，以及哺乳动物受试者中指示特发性神经变性疾病的生物标志物。 生物标志物包含哺乳动物受试者中基因的前体 - 信使RNA（前mRNA）转录物的剪接变体mRNA，其中（a）剪接变体mRNA的量与所述剪接变体mRNA的另一个剪接变体mRNA的量的比例 与没有疾病的对照相比，在具有神经变性疾病的哺乳动物受试者中相同基因的相同前体信使RNA（前mRNA）转录物不同; 或（b）与没有疾病的对照相比，在具有神经变性疾病的哺乳动物受试者中，剪接变体mRNA的量与总18S RNA的量的比例是不同的。 生物标志物可用于诊断受试者的神经变性疾病。