scholarly journals Importance of three-dimensional speckle tracking in the assessment of left atrial and ventricular dysfunction in patients with myotonic dystrophy type 1

2018 ◽  
Vol 37 (4) ◽  
pp. 333-338 ◽  
Author(s):  
Henrique Guedes ◽  
Nuno Moreno ◽  
Rui Pontes dos Santos ◽  
Leonor Marques ◽  
Daniel Seabra ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Left Atrial ◽  
Speckle Tracking ◽  
Ventricular Dysfunction ◽  
Three Dimensional ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals Three-dimensional imaging in myotonic dystrophy type 1

2020 ◽  
Vol 6 (4) ◽  
pp. e484
Author(s):  
Alfonsina Ballester-Lopez ◽  
Judit Núñez-Manchón ◽  
Emma Koehorst ◽  
Ian Linares-Pardo ◽  
Miriam Almendrote ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Disease Onset ◽  
Three Dimensional ◽  
Minor Role ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Rna Foci ◽  
Cytoplasmic Rna ◽  
Ctg Expansion

ObjectiveWe aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1).MethodsWe obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-guanine (CTG) expansion and detected RNA foci and muscleblind like 1 (MBNL1) through 3D reconstruction. We studied dystrophia myotonica protein kinase (DMPK) expression and splicing alterations of MBNL1, insulin receptor, and sarcoplasmic reticulum Ca(2+)-ATPase 1.ResultsThree-dimensional analysis showed that RNA foci (nuclear and/or cytoplasmic) were present in 45%–100% of DM1-derived myoblasts we studied (range: 0–6 foci per cell). RNA foci represented <0.6% of the total myoblast nuclear volume. CTG expansion size was associated with the number of RNA foci per myoblast (r = 0.876 [95% confidence interval 0.222–0.986]) as well as with the number of cytoplasmic RNA foci (r = 0.943 [0.559–0.994]). Although MBNL1 colocalized with RNA foci in all DM1 myoblast cell lines, colocalization only accounted for 1% of total MBNL1 expression, with the absence of DM1 alternative splicing patterns. The number of RNA foci was associated with DMPK expression (r = 0.967 [0.079–0.999]). On the other hand, the number of cytoplasmic RNA foci was correlated with the age at disease onset (r = −0.818 [−0.979 to 0.019]).ConclusionsCTG expansion size modulates RNA foci number in myoblasts derived from patients with DM1. MBNL1 sequestration plays only a minor role in the pathobiology of the disease in these cells. Higher number of cytoplasmic RNA foci is related to an early onset of the disease, a finding that should be corroborated in future studies.

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