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Intron retention induced by microsatellite expansions as a disease biomarker

by Cleary, John D. , Carrell, Ellie M. , Bhatt, Kirti , Ashizawa, Tetsuo , Oliveira, Ruan , Sznajder, Łukasz J. , Thornton, Charles A. , Nutter, Curtis A. , Sobczak, Krzysztof , Ranum, Laura P. W. , Swanson, Maurice S. , Reid, Tammy , Thomas, James D. , McFarland, Karen N.

in Amyotrophic lateral sclerosis / Amyotrophic Lateral Sclerosis - genetics / Base Composition / Biological Sciences / Biomarkers / Cornea / Corneal dystrophy / Dementia disorders / DNA Repeat Expansion - genetics / Dystrophy / Frontotemporal dementia / Frontotemporal Dementia - genetics / Fuchs' Endothelial Dystrophy - genetics / Hereditary diseases / Humans / Introns / Introns - genetics / Lymphocytes / Lymphocytes - chemistry / Medical Sciences / Microsatellites / Muscle, Skeletal - chemistry / Mutation / Myocardium - chemistry / Myotonic dystrophy / Myotonic Dystrophy - genetics / Neuromuscular diseases / Non-coding RNA / Organ Specificity / Peripheral blood / Polymorphism, Single Nucleotide / Retention / Reverse Transcriptase Polymerase Chain Reaction / Ribonucleic acid / RNA / RNA Splicing / RNA-Binding Proteins - genetics / Sensitivity and Specificity / Simple sequence repeats / Tissue Array Analysis

2018

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Intron retention induced by microsatellite expansions as a disease biomarker

2018

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Intron retention induced by microsatellite expansions as a disease biomarker

2018

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Journal Article

Intron retention induced by microsatellite expansions as a disease biomarker

Cleary, John D.,

Carrell, Ellie M.,

Bhatt, Kirti,

Ashizawa, Tetsuo,

Oliveira, Ruan,

Sznajder, Łukasz J.,

Thornton, Charles A.,

Nutter, Curtis A.,

Sobczak, Krzysztof,

Ranum, Laura P. W.,

Swanson, Maurice S.,

Reid, Tammy,

Thomas, James D.,

McFarland, Karen N.

2018

Overview

Expansions of simple sequence repeats, or microsatellites, have been linked to ∼30 neurological–neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to hexanucleotide repeats, causing hereditary diseases such as myotonic dystrophy type 2 (DM2), Fuchs endothelial corneal dystrophy (FECD), and C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD). Here, we test the hypothesis that these GC-rich intronic microsatellite expansions selectively trigger host intron retention (IR). Using DM2, FECD, and C9-ALS/FTD as examples, we demonstrate that retention is readily detectable in affected tissues and peripheral blood lymphocytes and conclude that IR screening constitutes a rapid and inexpensive biomarker for intronic repeat expansion disease.

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Publisher

National Academy of Sciences

Subject

Amyotrophic lateral sclerosis

/ Amyotrophic Lateral Sclerosis - genetics

/ Base Composition

/ Biological Sciences

/ Biomarkers

/ Cornea

/ Corneal dystrophy