Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: A chance association or a novel phenotype?

2011 ◽  
Vol 44 (5) ◽  
pp. 826-828 ◽  
Author(s):  
Nicola Carboni ◽  
Giovanni Marrosu ◽  
Maurizio Porcu ◽  
Anna Mateddu ◽  
Elisabetta Solla ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Chain Gene ◽  
Laminin Α2 ◽  
Merosin Deficiency

Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin α2 chain gene

2003 ◽  
Vol 13 (3) ◽  
pp. 216-222 ◽  
Author(s):  
Sylvie Besse ◽  
Valérie Allamand ◽  
Jean-Thomas Vilquin ◽  
Zhenlin Li ◽  
Christophe Poirier ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Chain Gene ◽  
Laminin Α2

scholarly journals Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophy

Brain ◽  
2000 ◽  
Vol 123 (1) ◽  
pp. 31-41 ◽  
Author(s):  
I. Naom ◽  
M. D'alessandro ◽  
C. A. Sewry ◽  
Philip Jardine ◽  
A. Ferlini ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Chain Gene ◽  
Laminin Α2

Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

1998 ◽  
Vol 8 (7) ◽  
pp. 495-501 ◽  
Author(s):  
I Naom ◽  
M D'Alessandro ◽  
C.A Sewry ◽  
J Philpot ◽  
A.Y Manzur ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutations ◽  
Limb Girdle Muscular Dystrophy ◽  
Chain Gene ◽  
Laminin Α2

LAMININ α2 (MEROSIN) DEFICIENCY RELEVANCE FOR ABNORMAL CORTICAL GYRATION

1999 ◽  
Vol 58 (5) ◽  
pp. 519
Author(s):  
F. Lubieniecki ◽  
D. Diaz ◽  
M. Schultz ◽  
V. Ruggeri ◽  
M. Saccoliti ◽  
...  
Keyword(s):  
Laminin Α2 ◽  
Merosin Deficiency

A novel β-myosin heavy chain gene mutation, p.Met531Arg, identified in isolated left ventricular non-compaction in humans, results in left ventricular hypertrophy that progresses to dilation in a mouse model

2008 ◽  
Vol 114 (6) ◽  
pp. 431-440 ◽  
Author(s):  
Tomoya Kaneda ◽  
Chie Naruse ◽  
Atsuhiro Kawashima ◽  
Noboru Fujino ◽  
Toru Oshima ◽  
...  
Keyword(s):  
Mouse Model ◽  
Transgenic Mice ◽  
Dilated Cardiomyopathy ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Chain Gene ◽  
The Novel ◽  
Sarcomeric Protein

Mutations in the βMHC (β-myosin heavy chain), a sarcomeric protein are responsible for hypertrophic and dilated cardiomyopathy. However, the mechanisms whereby distinct mutations in the βMHC gene cause two kinds of cardiomyopathy are still unclear. In the present study we report a novel βMHC mutation found in a patient with isolated LVNC [LV (left ventricular) non-compaction] and the phenotype of a mouse mutant model carrying the same mutation. To find the mutation responsible, we searched for genomic mutations in 99 unrelated probands with dilated cardiomyopathy and five probands with isolated LVNC, and identified a p.Met531Arg mutation in βMHC in a 13-year-old girl with isolated LVNC. Next, we generated six lines of transgenic mice carrying a p.Met532Arg mutant αMHC gene, which was identical with the p.Met531Arg mutation in the human βMHC. Among these, two lines with strong expression of the mutant αMHC gene were chosen for further studies. Although they did not exhibit the features characteristic of LVNC, approx. 50% and 70% of transgenic mice in each line displayed LVH (LV hypertrophy) by 2–3 months of age. Furthermore, LVD (LV dilation) developed in approx. 25% of transgenic mice by 18 months of age, demonstrating biphasic changes in LV wall thickness. The present study supports the idea that common mechanisms may be involved in LVH and LVD. The novel mouse model generated can provide important information for the understanding of the pathological processes and aetiology of cardiac dilation in humans.

Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice

1995 ◽  
Vol 4 (6) ◽  
pp. 1055-1061 ◽  
Author(s):  
Yoshihide Sunada ◽  
Suzanne M. Bernier ◽  
Atsushi Utani ◽  
Yoshihiko Yamada ◽  
Kevin P. Campbell
Keyword(s):  
Muscular Dystrophy ◽  
Chain Gene ◽  
Mutant Transcript ◽  
Laminin Α2

scholarly journals Development of dilated cardiomyopathy in Bmal1-deficient mice

2012 ◽  
Vol 303 (4) ◽  
pp. H475-H485 ◽  
Author(s):  
Mellani Lefta ◽  
Kenneth S. Campbell ◽  
Han-Zhong Feng ◽  
Jian-Ping Jin ◽  
Karyn A. Esser
Keyword(s):  
Circadian Clock ◽  
Dilated Cardiomyopathy ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Clock Gene ◽  
Ex Vivo ◽  
Chain Gene ◽  
Circadian Clock Gene ◽  
Myosin Heavy Chain Isoform ◽  
Wide Range

Circadian rhythms are approximate 24-h oscillations in physiology and behavior. Circadian rhythm disruption has been associated with increased incidence of hypertension, coronary artery disease, dyslipidemia, and other cardiovascular pathologies in both humans and animal models. Mice lacking the core circadian clock gene, brain and muscle aryl hydrocarbon receptor nuclear translocator (ARNT)-like protein ( Bmal1), are behaviorally arrhythmic, die prematurely, and display a wide range of organ pathologies. However, data are lacking on the role of Bmal1 on the structural and functional integrity of cardiac muscle. In the present study, we demonstrate that Bmal1 −/− mice develop dilated cardiomyopathy with age, characterized by thinning of the myocardial walls, dilation of the left ventricle, and decreased cardiac performance. Shortly after birth the Bmal1 −/− mice exhibit a transient increase in myocardial weight, followed by regression and later onset of dilation and failure. Ex vivo working heart preparations revealed systolic ventricular dysfunction at the onset of dilation and failure, preceded by downregulation of both myosin heavy chain isoform mRNAs. We observed structural disorganization at the level of the sarcomere with a shift in titin isoform composition toward the stiffer N2B isoform. However, passive tension generation in single cardiomyocytes was not increased. Collectively, these findings suggest that the loss of the circadian clock gene, Bmal1, gives rise to the development of an age-associated dilated cardiomyopathy, which is associated with shifts in titin isoform composition, altered myosin heavy chain gene expression, and disruption of sarcomere structure.

scholarly journals Two novel mutations in the β-myosin heavy chain gene associated with dilated cardiomyopathy

2004 ◽  
Vol 6 (7) ◽  
pp. 861-868 ◽  
Author(s):  
Satu Kärkkäinen ◽  
Tiina Heliö ◽  
Pertti Jääskeläinen ◽  
Raija Miettinen ◽  
Petri Tuomainen ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Chain Gene ◽  
Heavy Chain Gene ◽  
Myosin Heavy Chain Gene ◽  
Novel Mutations

scholarly journals Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

2005 ◽  
Vol 26 (8) ◽  
pp. 794-803 ◽  
Author(s):  
Eric Villard ◽  
Laetitia Duboscq-Bidot ◽  
Philippe Charron ◽  
Abdelaziz Benaiche ◽  
Viviane Conraads ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Mutation Screening ◽  
Chain Gene ◽  
Heavy Chain Gene ◽  
Myosin Heavy Chain Gene
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