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The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1
Alfonsina Ballester-Lopez1,2, Ian Linares-Pardo1, Emma Koehorst1
1Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Barcelona, Spain.
Genes
|July 11, 2020
Summary
Determining the CTG expansion size in myotonic dystrophy type 1 (DM1) is challenging. Small pool PCR (SP-PCR) showed promise for assessing progenitor allele size and its correlation with disease onset.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Background:
- Myotonic dystrophy type 1 (DM1) is characterized by CTG repeat expansions in the DMPK gene's 3'UTR.
- CTG expansion size correlates with disease onset and severity but is challenging to determine due to instability.
Purpose of the Study:
- To compare five methods for accurately measuring CTG expansion size in DM1 patients.
- To identify the most suitable method for assessing progenitor allele CTG expansion size and its clinical relevance.
Main Methods:
- Comparison of heat pulse extension PCR, long PCR-Southern blot (3 primer sets), and small pool PCR (SP-PCR).
- Estimation of progenitor allele and most abundant CTG expansion sizes in 15 DM1 patients.
Main Results:
- Variability observed between the tested methods.
- SP-PCR showed potential suitability, with a significant inverse correlation between progenitor allele CTG size and age of onset (r = -0.734, p = 0.016).
Conclusions:
- SP-PCR may be a suitable method for assessing CTG expansion size in DM1.
- An international consensus is needed to standardize CTG expansion size assessment due to observed method variability.
