Publications

Dernière publication 02/04/2019

Functional rescue in a mouse model of congenital muscular dystrophy with megacon

Congenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle weakness and...

Array
(
    [id_prestablog_news] => 1118
    [id_shop] => 1
    [date] => 2019-04-02 00:00:00
    [date_modification] => 2024-02-09 14:15:12
    [langues] => ["1","2"]
    [actif] => 1
    [slide] => 0
    [url_redirect] => 
    [average_rating] => 
    [number_rating] => 
    [author_id] => 1
    [featured] => 0
    [ishero] => 0
    [prim_key] => 2198
    [id_lang] => 2
    [title] => Functional rescue in a mouse model of congenital muscular dystrophy with megacon
    [paragraph] => Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy
    [content] => 
Authors
AA Sayed, RB Sher, SJ Sukoff Rizzo, LC Anderson et al

 Lab
The Jackson Laboratory, 600 Maine Street, Bar Harbor, ME 04609, USA.
Journal
Human Molecular Genetics
Abstract
Congenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. The observation of megamitochondria in skeletal muscle biopsies is exclusive to this type of MD. The disease is caused by loss of function mutations in the choline kinase beta (CHKB) gene which results in dysfunction of the Kennedy pathway for the synthesis of phosphatidylcholine. We have previously reported a rostrocaudal MD (rmd) mouse with a deletion in the Chkb gene resulting in an MDCMC-like phenotype, and we used this mouse to test gene therapy strategies for the rescue and alleviation of the dystrophic phenotype. Introduction of a muscle-specific Chkb transgene completely rescues motor and behavioral function in the rmd mouse model, confirming the cell-autonomous nature of the disease. Intramuscular gene therapy post-disease onset using an adeno-associated viral 6 (AAV6) vector carrying a functional copy of Chkb is also capable of rescuing the dystrophy phenotype. In addition, we examined the ability of choline kinase alpha (Chka), a gene paralog of Chkb, to improve dystrophic phenotypes when upregulated in skeletal muscles of rmd mutant mice using a similar AAV6 vector. The sum of our results in a preclinical model of disease suggest that replacement of the Chkb gene or upregulation of endogenous Chka could serve as potential lines of therapy for MDCMC patients.
BIOSEB Instruments Used
Grip strength test (BIO-GS3)

Keywords/Topics
Myopathie de Duchenne; Système musculaire
    [meta_description] => 
    [meta_keywords] => https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddz068/5424999?redirectedFrom=fulltext
    [meta_title] => 
    [link_rewrite] => functional-rescue-in-a-mouse-model-of-congenital-muscular-dystrophy-with-megaconial-myopathy
    [actif_langue] => 1
    [read] => 954
    [count_comments] => 0
    [id] => 1118
    [categories] => Array
        (
            [44] => Array
                (
                    [id_prestablog_categorie] => 44
                    [title] => Myopathie de Duchenne
                    [link_rewrite] => Myopathie-de-Duchenne
                )

            [2] => Array
                (
                    [id_prestablog_categorie] => 2
                    [title] => Publications
                    [link_rewrite] => publications
                )

            [20] => Array
                (
                    [id_prestablog_categorie] => 20
                    [title] => Système musculaire
                    [link_rewrite] => Systeme-musculaire
                )

        )

    [authors] => 
    [paragraph_crop] => Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy
    [link_for_unique] => 1
    [products_liaison] => Array
        (
            [48] => Array
                (
                    [name] => Test d'agrippement
                    [description_short] => 
Une méthode simple pour quantifier objectivement la force musculaire des rats et souris et l'effet de drogues, toxines, maladies musculaires (ex: myopathie) et neurodégénératives. Cette mesure de force est souvent employée en association avec le test de coordination motrice ROTAROD: un sujet présentant une coordination normale montrera des résultats médiocres en cas de faible force musculaire. Un must pour vos recherches sur l'activité, la coordination et le contrôle musculaire: particulièrement utile pour vos études sur les maladies de Parkinson et Huntington.
Nouveautés GS4 - 2023: Écran couleur rétroéclairé (meilleure lisibilité), pédale de remise à zéro, durée de batterie optimisée, taille de mémoire augmentée à 500 valeurs, compteur d'animaux, port USB (transfert de données/charge)

                    [thumb] => 
                    [img_empty] => /var/www/vhosts/de3310.ispfr.net/bioseb2024/modules/prestablog/views/img/product_link_white.jpg
                    [image_presente] => 1
                    [link] => https://bioseb.com/fr/activite-systeme-moteur-coordination/48-grip-strength-test.html
                )

        )

)
1