Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna
R298C/R298C
NeuroMolecular Medicine, Volume 14, No. 1, Year 2012
Notification
URL copied to clipboard!
Description
In 2002, we identified LMNA as the first gene responsible for an autosomal recessive axonal form of Charcot-Marie-Tooth disease, AR-CMT2A. All patients were found to be homozygous for the same mutation in the LMNA gene, p.Arg298Cys. In order to investigate the physiopathological mechanisms underlying AR-CMT2A, we have generated a knock-in mouse model for the Lmna p.Arg298Cys mutation. We have explored these mice through an exhaustive series of behavioral tests and histopathological analyses, but were not able to find any peripheral nerve phenotype, even at 18 months of age. Interestingly at the molecular level, however, we detect a downregulation of the Lmna gene in all tissues tested from the homozygous knock-in mouse Lmna R298C/R298C (skeletal muscle, heart, peripheral nerve, spinal cord and cerebral trunk). Importantly, we further reveal a significant upregulation of Pmp22, specifically in the sciatic nerves of Lmna R298C/R298C mice. These results indicate that, despite the absence of a perceptible phenotype, abnormalities exist in the peripheral nerves of Lmna R298C/R298C mice that are absent from other tissues. Although the mechanisms leading to deregulation of Pmp22 in Lmna R298C/R298C mice are still unclear, our results support a relation between Lmna and Pmp22 and constitute a first step toward understanding AR-CMT2A physiopathology. © 2012 Springer Science+Business Media, LLC.
Authors & Co-Authors
Poitelon, Yannick
France, Marseille
Aix Marseille Université
Kozlov, Serguei V.
United States, Frederick
National Cancer Institute at Frederick
Devaux, Jerôme
France, Marseille
Aix Marseille Université
Vallat, Jean Michel
France, Limoges
Chu de Limoges
Jamon, Marc
France, Marseille
Aix Marseille Université
Roubertoux, Pierre L.
France, Marseille
Aix Marseille Université
Rabarimeriarijaona, Sitraka
France, Marseille
Aix Marseille Université
Baudot, Cécile
France, Marseille
Aix Marseille Université
Hamadouche, Tarik
France, Marseille
Aix Marseille Université
Algeria, Algiers
Université D’alger 1
Algeria, Boumerdes
Université de Boumerdes
Stewart, Colin Lawson
Singapore, Singapore City
A-star, Institute of Medical Biology
Lévy, Nicolas
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Delague, Valeŕie
France, Marseille
Aix Marseille Université
Statistics
Citations: 19
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1007/s12017-012-8168-z
ISSN:
15351084
e-ISSN:
15591174
Research Areas
Cancer
Genetics And Genomics