Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

Genes

Guillem Pintos-Morell¹  Alejandro Lucia²  SarahA. Cumming³  DarrenG. Monckton³  Alicia Martínez-Piñeiro⁴  Giuseppe Lucente⁴  Alba Ramos-Fransi⁴  Miriam Almendrote⁴  Andrea Arbex⁴  Jaume Coll-Cantí⁴  Gisela Nogales-Gadea⁵  Emma Koehorst⁵  Judit Núñez-Manchón⁵  Ian Linares-Pardo⁵  Alfonsina Ballester-Lopez⁵  CarlesPuente⁶ 

[1] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain;Facultad de Ciencias de la Actividad física y el Deporte, Universidad Europea, 28670 Madrid, Spain;Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G126QQ, UK;Neuromuscular Pathology Unit, Neurology Service, Neuroscience department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Barcelona, Spain;Neuromuscular 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;Servei de Cirugia Ortopèdica i Traumatologia, Unitat de mà i nervi Perifèric, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain;

关键词: myotonic dystrophy type 1;    somatic instability;    CTG expansion;    blood;    muscle;    skin;   

DOI  :  10.3390/genes11111321

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown