Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Alfonsina Ballester-LopezEmma KoehorstIan Linares-PardoJudit Núñez-ManchónMiriam AlmendroteGiuseppe LucenteAndrea ArbexCarles PuenteAlejandro LuciaDarren G MoncktonSarah A CummingGuillem Pintos-MorellJaume Coll-CantíAlba Ramos-FransiAlicia Martínez-PiñeiroGisela Nogales-GadeaPublished in: Genes (2020)
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. We studied the variability of the CTG expansion (progenitor, mode, and longest allele, respectively, and genetic instability) in three tissues (blood, muscle, and tissue) from eight patients with DM1. We also studied the association of genetic data with the patients' clinical characteristics. Although genetic instability was confirmed in all the tissues that we studied, our results suggest that CTG expansion is larger in muscle and skin cells compared with peripheral blood leukocytes. While keeping in mind that more research is needed in larger cohorts, we have provided preliminary evidence suggesting that the estimated progenitor CTG size in muscle could be potentially used as an indicator of age of disease onset and muscle function impairment.
Keyphrases
- peripheral blood
- genome wide
- skeletal muscle
- copy number
- gene expression
- end stage renal disease
- chronic kidney disease
- induced apoptosis
- ejection fraction
- dna methylation
- type diabetes
- metabolic syndrome
- peritoneal dialysis
- solid phase extraction
- oxidative stress
- soft tissue
- molecularly imprinted
- prognostic factors
- electronic health record
- insulin resistance
- machine learning
- deep learning
- muscular dystrophy
- cell death
- solid state
- liquid chromatography
- simultaneous determination