scholarly journals A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in aDrosophilaModel of Myotonic Dystrophy

ChemMedChem ◽  
2016 ◽  
Vol 11 (13) ◽  
pp. 1428-1435 ◽  
Author(s):  
Long M. Luu ◽  
Lien Nguyen ◽  
Shaohong Peng ◽  
JuYeon Lee ◽  
Hyang Yeon Lee ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Potent Inhibitor ◽  
Protein Sequestration ◽  
Cug Repeats

scholarly journals Computational Investigation of RNA CUG Repeats Responsible for Myotonic Dystrophy 1

2015 ◽  
Vol 11 (10) ◽  
pp. 4943-4958 ◽  
Author(s):  
Ilyas Yildirim ◽  
Debayan Chakraborty ◽  
Matthew D. Disney ◽  
David J. Wales ◽  
George C. Schatz
Keyword(s):  
Myotonic Dystrophy ◽  
Computational Investigation ◽  
Cug Repeats

scholarly journals Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

2002 ◽  
Vol 10 (1) ◽  
pp. 35-44 ◽  
Author(s):  
Ami Mankodi ◽  
Masanori P. Takahashi ◽  
Hong Jiang ◽  
Carol L. Beck ◽  
William J. Bowers ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Myotonic Dystrophy ◽  
Chloride Channel ◽  
Aberrant Splicing ◽  
Cug Repeats

scholarly journals Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic Dystrophy

1996 ◽  
Vol 5 (1) ◽  
pp. 115-121 ◽  
Author(s):  
L. T. Timchenko ◽  
N. A. Timchenko ◽  
C. T. Caskey ◽  
R. Roberts
Keyword(s):  
Myotonic Dystrophy ◽  
Binding Specificity ◽  
Ctg Repeats ◽  
Novel Proteins ◽  
Cug Repeats

The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1

2010 ◽  
Vol 1 (3) ◽  
Author(s):  
Ian Holt ◽  
Ros Quinlivan ◽  
Jillian Couto ◽  
Darren Monckton ◽  
Glenn Morris
Keyword(s):  
Myotonic Dystrophy ◽  
In Situ Hybridisation ◽  
Rapid Test ◽  
Buccal Cells ◽  
Autosomal Dominant Disorder ◽  
Nuclear Foci ◽  
Cug Repeats ◽  
Positive Results

AbstractType 1 myotonic dystrophy (DM1) is an autosomal dominant disorder caused by a CTG repeat expansion. RNA containing expanded CUG repeats does not leave the nucleus, but accumulates in discrete nuclear foci which sequester the human muscleblind-like (MBNL) proteins. We have examined buccal cells from 15 adult DM1 patients and 7 control non-DM patients to determine whether nuclear foci can be detected by either immunostaining for MBNL1 protein or fluorescent in situ hybridisation (FISH) for the CUG repeat RNA. Both methods detected nuclear foci in all three early-onset patients, but only in a minority of 12 less severe DM1 patients. There were no false-positive results in the 7 controls. Although the method does not reliably identify all DM1 patients, it may prove useful as a rapid test for severe congenital DM1 in floppy babies.

scholarly journals Structural insights into CUG repeats containing the ‘stretched U–U wobble’: implications for myotonic dystrophy

2009 ◽  
Vol 37 (12) ◽  
pp. 4149-4156 ◽  
Author(s):  
Agnieszka Kiliszek ◽  
Ryszard Kierzek ◽  
Wlodzimierz J. Krzyzosiak ◽  
Wojciech Rypniewski
Keyword(s):  
Myotonic Dystrophy ◽  
Cug Repeats ◽  
Structural Insights

scholarly journals miR-322/-503 rescues myoblast defects in myotonic dystrophy type 1 cell model by targeting CUG repeats

2020 ◽  
Vol 11 (10) ◽  
Author(s):  
Xiaopeng Shen ◽  
Feng Xu ◽  
Meng Li ◽  
Shen Wu ◽  
Jingyi Zhang ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Cell Model ◽  
C2c12 Cells ◽  
Myoblast Differentiation ◽  
C2c12 Myoblast ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Cug Repeats

Abstract Myotonic dystrophy type 1 (DM1) is the most common type of adult muscular dystrophy caused by the expanded triple-nucleotides (CUG) repeats. Myoblast in DM1 displayed many defects, including defective myoblast differentiation, ribonuclear foci, and aberrant alternative splicing. Despite many were revealed to function in DM1, microRNAs that regulated DM1 via directly targeting the expanded CUG repeats were rarely reported. Here we discovered that miR-322/-503 rescued myoblast defects in DM1 cell model by targeting the expanded CUG repeats. First, we studied the function of miR-322/-503 in normal C2C12 myoblast cells. Downregulation of miR-322/-503 significantly hindered the myoblast differentiation, while miR-322/-503 overexpression promoted the process. Next, we examined the role of miR-322/-503 in the DM1 C2C12 cell model. miR-322/-503 was downregulated in the differentiation of DM1 C2C12 cells. When we introduced ectopic miR-322/-503 expression into DM1 C2C12 cells, myoblast defects were almost fully rescued, marked by significant improvements of myoblast differentiation and repressions of ribonuclear foci formation and aberrant alternative splicing. Then we investigated the downstream mechanism of miR-322/-503 in DM1. Agreeing with our previous work, Celf1 was proven to be miR-322/-503′s target. Celf1 knockdown partially reproduced miR-322/-503′s function in rescuing DM1 C2C12 differentiation but was unable to repress ribonuclear foci, suggesting other targets of miR-322/-503 existed in the DM1 C2C12 cells. As the seed regions of miR-322 and miR-503 were complementary to the CUG repeats, we hypothesized that the CUG repeats were the target of miR-322/-503. Through expression tests, reporter assays, and colocalization staining, miR-322/-503 was proved to directly and specifically target the expanded CUG repeats in the DM1 cell model rather than the shorter ones in normal cells. Those results implied a potential therapeutic function of miR-322/-503 on DM1, which needed further investigations in the future.

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