Clinical features and therapeutic strategies for managing the striated muscle laminopathies. (2nd June 2016)

• Record Type: Journal Article
• Authors: Macquart, Coline; Ben Yaou, Rabah; Muchir, Antoine; Wahbi, Karim; Bonne, Gisèle
• Is Part Of: Expert opinion on orphan drugs. Volume 4:Number 6(2016:Jun.)
• Page Start: 631
• Page End: 638
• Publication Date: 2016-06-02
• Subjects: LMNA gene -- lamin A/C -- cardiomyopathy -- laminopathy -- Emery-Dreifuss muscular dystrophy -- limb-girdle muscular dystrophy type 1B -- LMNA-related congenital muscular dystrophy -- dilated cardiomyopathy with conduction system disease; Orphan drugs -- Periodicals; Rare diseases -- Periodicals; Chemotherapy -- Periodicals; 615.1
• DOI: 10.1080/21678707.2016.1180975
• Languages: English
• ISSNs: 2167-8707

Abstract

ABSTRACT: Introduction : Laminopathies are a diverse and complex group of rare genetic conditions due to mutations in A-type lamins gene ( LMNA ). Striated muscle laminopathies (SML) are the most frequent type of laminopathies that affect skeletal and/or cardiac muscle, with cardiac disease being the major cause of death of SML patients. There is currently no specific treatment to prevent or slow down the disease progression of SML. Areas covered : Remarkable progress has been made in the description of the clinical and genetic spectrum of SML since the first described LMNA mutation seventeen years ago, that had allowed first deciphering of the cardiac disease mechanisms and identification of therapeutic targets. This review will provide the current status of the clinical features and standards of care of SML as well as the therapeutic strategies under development for a better and specific management of the cardiac involvement of SML. Expert opinion : Current treatment of SML is not targeted and relies on approaches considered standard for any form of dilated cardiomyopathy. Research on pathophysiology with mouse models has been extremely helpful in deciphering critical mechanisms and for proposing potential innovative pharmacological therapies. Still, it appears necessary to have a better grasp on the pathogenesis to develop and propose the first targeted treatment for SML patients and to successfully move from bench to bed.