... complications. The latter are biphasic, including infantile dilated cardiomyopathy and distinct adult-onset cardiomyopathy, and poorly understood. We assessed cardiac function of Alms1 knockout (KO) mice by echocardiography. Cardiac function was unaltered in Alms1 global KO mice of both sexes at postnatal day...

...Nicole M. Sayles; Jill S. Napierala; Josef Anrather; Nadège Diedhiou; Jixue Li; Marek Napierala; Hélène Puccio; Giovanni Manfredi ABSTRACT Cardiomyopathy is often fatal in Friedreich ataxia (FA). However, FA hearts maintain adequate function until advanced disease stages, suggesting initial...

... caused, in most cases, by decreased expression of the mitochondrial protein frataxin. Cardiomyopathy is the leading cause of premature death. Frataxin functions in the biogenesis of iron-sulfur clusters, which are prosthetic groups that are found in proteins involved in many biological processes...

... genetic assay in adult zebrafish using the bag3 gene knockout ( bag3 e2/e2 ) cardiomyopathy model as a paradigm. First, by utilizing a classic genetic breeding approach, we identified dnajb6b as a deleterious modifier gene for bag3 cardiomyopathy. Next, we established an F0-based genetic assay in adult...

...Ekaterina Migunova; Joanna Theophilopoulos; Marisa Mercadante; Jing Men; Chao Zhou; Edward B. Dubrovsky ABSTRACT A severe form of infantile cardiomyopathy (CM) has been linked to mutations in ELAC2 , a highly conserved human gene. It encodes Zinc phosphodiesterase ELAC protein 2 (ELAC2), which...

... heart diseases, which are often complex and multigenic, are still far from understood. Moreover, there are also predominantly monogenic heart defects, such as cardiomyopathies, with known disease genes for the majority of cases. In this study, we identified mutations in myomesin 2 ( MYOM2 ) in patients...

...Melanie Gartz; Chien-Wei Lin; Mark A. Sussman; Michael W. Lawlor; Jennifer L. Strande ABSTRACT Cardiomyopathy is a leading cause of early mortality in Duchenne muscular dystrophy (DMD). There is a need to gain a better understanding of the molecular pathogenesis for the development effective...

... neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which is the primary cause of death in DMD. Although there has been extensive effort in creating animal models to study...

... by progressive neurodegeneration and cardiomyopathy, the latter being the most common cause of death in patients. We previously developed a Drosophila melanogaster cardiac model of FA, in which the fly frataxin is inactivated specifically in the heart, leading to heart dilatation and impaired systolic function...

...: pathogenetic aspects and genetic prevention . Hum. Genet.   66 , 17 - 40 . 10.1007/BF00275183 Muntoni , F. ( 2003 ). Cardiomyopathy in muscular dystrophies . Curr. Opin. Neurol.   16 , 577 - 583 . 10.1097/00019052-200310000-00003 Pastoret , C. and Sebille , A. ( 1995 ). mdx...

... in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier in Charcot–Marie–Tooth 2K peripheral neuropathy. Drosophila melanogaster has a single...

...Yanyi Sun; Qiuyun Wang; Yuehua Fang; Chunfang Wu; Guoping Lu; Zhenyue Chen ABSTRACT Hyperglycemia is an independent risk factor for diabetic cardiomyopathy in humans; however, the underlying mechanisms have not been thoroughly elucidated. Zebrafish ( Danio rerio ) was used in this study as a novel...

... and therapeutic outcomes. We critically evaluate whether treatments suggested by these in vitro models could be translated to clinical practice. Finally, we consider current shortcomings of these models and propose methods by which they could be further improved. Inherited cardiomyopathies are a second group...