Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.
Details
State: Public
Version: Final published version
Serval ID
serval:BIB_FC0BAC5F9B4E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.
Journal
Respiratory Physiology and Neurobiology
ISSN
1878-1519 (Electronic)
ISSN-L
1569-9048
Publication state
Published
Issued date
2013
Peer-reviewed
Oui
Volume
189
Number
1
Pages
22-26
Language
english
Abstract
Myotonic dystrophy (DM1) is a multisystemic disease caused by an expansion of CTG repeats in the region of DMPK, the gene encoding DM protein kinase. The severity of muscle disability in DM1 correlates with the size of CTG expansion. As respiratory failure is one of the main causes of death in DM1, we investigated the correlation between respiratory impairment and size of the (CTG)n repeat in DM1 animal models. Using pressure plethysmography the respiratory function was assessed in control and transgenic mice carrying either 600 (DM600) or >1300 CTG repeats (DMSXL). The statistical analysis of respiratory parameters revealed that both DM1 transgenic mice sub-lines show respiratory impairment compared to control mice. In addition, there is no significant difference in breathing functions between the DM600 and DMSXL mice. In conclusion, these results indicate that respiratory impairment is present in both transgenic mice sub-lines, but the severity of respiratory failure is not related to the size of the (CTG)n expansion.
Pubmed
Web of science
Open Access
Yes
Create date
21/11/2013 19:11
Last modification date
20/08/2019 17:27