Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Adolescent
Adult
Alleles
Blood
/ metabolism
Cytosine
/ metabolism
Female
Genetic Variation
/ genetics
Guanine
/ metabolism
Humans
Male
Middle Aged
Muscle, Skeletal
/ metabolism
Myotonic Dystrophy
/ genetics
Protein Serine-Threonine Kinases
/ genetics
Skin
/ metabolism
Thymine
/ metabolism
Trinucleotide Repeat Expansion
/ genetics
CTG expansion
blood
muscle
myotonic dystrophy type 1
skin
somatic instability
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
07 11 2020
07 11 2020
Historique:
received:
18
09
2020
revised:
02
11
2020
accepted:
04
11
2020
entrez:
11
11
2020
pubmed:
12
11
2020
medline:
27
7
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33171734
pii: genes11111321
doi: 10.3390/genes11111321
pmc: PMC7695006
pii:
doi:
Substances chimiques
Guanine
5Z93L87A1R
Cytosine
8J337D1HZY
Protein Serine-Threonine Kinases
EC 2.7.11.1
Thymine
QR26YLT7LT
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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