emerin and Syndrome

emerin has been researched along with Syndrome* in 3 studies

Reviews

1 review(s) available for emerin and Syndrome

ArticleYear
Emerin and the nuclear lamina in muscle and cardiac disease.
    Circulation research, 2008, Jul-03, Volume: 103, Issue:1

    The human genome is contained within the nucleus and is separated from the cytoplasm by the nuclear envelope. Mutations in the nuclear envelope proteins emerin and lamin A cause a number of diseases including premature aging syndromes, muscular dystrophy, and cardiomyopathy. Emerin and lamin A are implicated in regulating muscle- and heart-specific gene expression and nuclear architecture. For example, lamin A regulates the expression and localization of gap junction and intercalated disc components. Additionally, emerin and lamin A are also required to maintain nuclear envelope integrity. Demonstrating the importance of maintaining nuclear integrity in heart disease, atrioventricular node cells lacking lamin A exhibit increased nuclear deformation and apoptosis. This review highlights the present understanding of lamin A and emerin function in regulating nuclear architecture, gene expression, and cell signaling and discusses putative mechanisms for how specific mutations in lamin A and emerin cause cardiac- or muscle-specific disease.

    Topics: Aging, Premature; Animals; Apoptosis; Atrioventricular Node; Cardiomyopathies; Gene Expression Regulation; Genome, Human; Humans; Lamin Type A; Membrane Proteins; Muscular Dystrophies; Mutation; Myocardium; Nuclear Lamina; Nuclear Proteins; Organ Specificity; Signal Transduction; Syndrome

2008

Other Studies

2 other study(ies) available for emerin and Syndrome

ArticleYear
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
    Der Nervenarzt, 2002, Volume: 73, Issue:10

    Hauptmann-Thannhauser muscular dystrophy is characterized by the clinical triad of early-onset contractures of elbow, Achilles tendons, and cervical spine, slowly progressive humeroperoneal muscle wasting and weakness, and life-threatening cardiac involvement with conduction blocks manifesting in the third decade. Hauptmann-Thannhauser muscular dystrophy is due to mutations in the LMNA gene affecting the nuclear envelope proteins lamin A and C. We present a 16-year-old German boy with typical muscular involvement and contractures and typical course of Hauptmann-Thannhauser muscular dystrophy due to the novel missense mutation R401C. The data of this family suggest a lower penetrance of muscular and especially cardiac symptoms than expected. Autosomal-dominant Hauptmann-Thannhauser muscular dystrophy and X-chromosomal Emery-Dreifuss muscular dystrophy are not clearly distinguishable by phenotypic criteria. Other muscular diseases associated with contractures and congenital or childhood onset are reviewed.

    Topics: Adolescent; Biopsy; Cardiomyopathies; Cell Nucleus; Contracture; Humans; Lamin Type A; Male; Membrane Proteins; Muscle Weakness; Muscle, Skeletal; Muscular Atrophy; Muscular Dystrophy, Emery-Dreifuss; Mutation, Missense; Neurologic Examination; Nuclear Proteins; Pedigree; Phenotype; Syndrome; Thymopoietins

2002
Presence of emerinopathy in cases of rigid spine syndrome.
    Neuromuscular disorders : NMD, 1998, Volume: 8, Issue:7

    Rigid spine syndrome (RSS) shows clinical similarities to Emery-Dreifuss muscular dystrophy (EDMD). Differential diagnosis between EDMD and RSS is essential because EDMD is often associated with life-threatening cardiomyopathy that can be cured by an implantation of a cardiac pacemaker. To determine if any of the patients with RSS had mutations of the emerin gene (responsible gene for X-linked EDMD or emerinopathy), we screened the patients for mutations. We found seven patients with a clinical picture consistent with RSS in the 6500 diagnostic muscle biopsies in our National Center over the last 19 years. We identified a novel mutation in the gene (1-bp frame-shift deletion in the exon 1) in one of the seven patients with RSS. This mutation created a premature termination at codon 12 and was expected to produce a severely truncated emerin. Emerin was not detected in the skeletal muscle. The unaffected mother of the patient was a heterozygous carrier for the mutation. The remaining six patients with RSS had no mutation in the gene and showed normal expression of emerin in the skeletal muscle. Our results emphasize the presence of clinical overlap between possible RSS and EDMD, and reinforce the necessity of molecular genetic diagnosis of emerin to exclude emerinopathy in a patient population that has a clinical diagnosis of RSS.

    Topics: Adolescent; Adult; Base Sequence; Biopsy; Child; DNA Mutational Analysis; Exons; Humans; Male; Membrane Proteins; Muscle, Skeletal; Mutation; Nuclear Proteins; Polymorphism, Single-Stranded Conformational; Spinal Diseases; Syndrome; Thymopoietins

1998