Asset Details
Do you wish to reserve the book?
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies
Do you wish to request the book?
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies
2018
Overview
Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here we describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD). Using a training set, RT-PCR, droplet digital PCR, and principal component regression, we identify ten transcripts that are spliced differently in urine exRNA from patients with DM type 1 (DM1) as compared to unaffected or disease controls, form a composite biomarker, and develop a predictive model that is 100% accurate in our independent validation set. Urine also contains mutation-specific
DMD
mRNAs that confirm exon-skipping activity of the antisense oligonucleotide drug eteplirsen. Our results establish that urine mRNA splice variants can be used to monitor systemic diseases with minimal or no clinical effect on the urinary tract.
Patients with myotonic dystrophy need to undergo invasive muscle biopsies to monitor disease progression and response to therapy. Here, the authors show that extracellular RNAs in human urine can be used as biomarkers to differentiate patients from unaffected controls, and to monitor exon skipping in patients with Duchenne muscular dystrophy taking the drug eteplirsen.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 38/77
/ 38/88
/ 38/90
/ 692/53
/ Animals
/ Duchenne's muscular dystrophy
/ Humanities and Social Sciences
/ Humans
/ Muscular Dystrophies - diagnosis
/ Muscular Dystrophies - genetics
/ Muscular Dystrophies - urine
/ Muscular Dystrophy, Duchenne - diagnosis
/ Muscular Dystrophy, Duchenne - genetics
/ Muscular Dystrophy, Duchenne - urine
/ Mutation
/ Myotonic Dystrophy - diagnosis
/ Myotonic Dystrophy - genetics
/ RNA
/ Science
/ Urine
