J Clin Invest. 2000 Sep;106(5):655-62.

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA.

Source

Department of Pediatrics, Toyama Medical and Pharmaceutical University, Toyama, Japan.

Abstract

Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have been identified for the X-linked forms (dystrophin and tafazzin), whereas three other genes (actin, lamin A/C, and desmin) cause autosomal dominant DCM; seven other loci for autosomal dominant DCM have been mapped but the genes have not been identified. Hypothesizing that DCM is a disease of the cytoskeleton and sarcolemma, we have focused on candidate genes whose products are found in these structures. Here we report the screening of the human delta-sarcoglycan gene, a member of the dystrophin-associated protein complex, by single-stranded DNA conformation polymorphism analysis and by DNA sequencing in patients with DCM. Mutations affecting the secondary structure were identified in one family and two sporadic cases, whereas immunofluorescence analysis of myocardium from one of these patients demonstrated significant reduction in delta-sarcoglycan staining. No skeletal muscle disease occurred in any of these patients. These data suggest that delta-sarcoglycan is a disease-causing gene responsible for familial and idiopathic DCM and lend support to our "final common pathway" hypothesis that DCM is a cytoskeletalopathy.

PMID:: 10974018; [PubMed - indexed for MEDLINE]
PMCID: PMC381284

Free PMC Article

Images from this publication.See all images (4) Free text

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Related citations

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy. [Am J Med Genet A. 2003]
Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.
Sylvius N, Duboscq-Bidot L, Bouchier C, Charron P, Benaiche A, Sébillon P, Komajda M, Villard E. Am J Med Genet A. 2003 Jul 1; 120A(1):8-12.
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. [J Mol Med (Berl). 2003]
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
Kärkkäinen S, Miettinen R, Tuomainen P, Kärkkäinen P, Heliö T, Reissell E, Kaartinen M, Toivonen L, Nieminen MS, Kuusisto J, et al. J Mol Med (Berl). 2003 Dec; 81(12):795-800. Epub 2003 Oct 15.
Review [Genetics of dilated cardiomyopathy]. [Z Kardiol. 2001]
Review [Genetics of dilated cardiomyopathy].
Osterziel KJ, Scheffold T, Perrot A, Dietz R, Netzwerk Myokardiale Erkrankungen. Z Kardiol. 2001 Jul; 90(7):461-9.
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). [Neurogenetics. 1997]
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP. Neurogenetics. 1997 May; 1(1):49-58.
Review Current perspective new insights into the molecular basis of familial dilated cardiomyopathy. [Ital Heart J. 2001]
Review Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.
Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L, et al. Ital Heart J. 2001 Apr; 2(4):280-6.

See reviews... See all...

Cited by 33 PubMed Central articles

Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy. [PLoS One. 2011]
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy.
Rotundo IL, Faraso S, De Leonibus E, Nigro G, Vitiello C, Lancioni A, Di Napoli D, Castaldo S, Russo V, Russo F, et al. PLoS One. 2011; 6(9):e24729. Epub 2011 Sep 9.
δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches. [Skelet Muscle. 2011]
δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches.
Blain AM, Straub VW. Skelet Muscle. 2011 Mar 17; 1(1):13. Epub 2011 Mar 17.
Review Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. [Circ Cardiovasc Imaging. 2010]
Review Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy.
Raman SV, Basso C, Tandri H, Taylor MR. Circ Cardiovasc Imaging. 2010 Nov; 3(6):753-65.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated c...
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
J Clin Invest. 2000 Sep ;106(5):655-62.

PubMed
A comparison of outcomes involving highly cohesive, form-stable breast implants ...
A comparison of outcomes involving highly cohesive, form-stable breast implants from two manufacturers in patients undergoing primary breast augmentation.
Aesthet Surg J. 2010 Jan ;30(1):51-65.

PubMed
Autoantibodies in the autoimmune disease pemphigus foliaceus induce blistering v...
Autoantibodies in the autoimmune disease pemphigus foliaceus induce blistering via p38 mitogen-activated protein kinase-dependent signaling in the skin.
Am J Pathol. 2008 Dec ;173(6):1628-36. Epub 2008 Nov 6 .

PubMed
Neuroprotective and consequent neurorehabilitative clinical outcomes, in patient...
Neuroprotective and consequent neurorehabilitative clinical outcomes, in patients treated with the pleiotropic drug cerebrolysin.
J Med Life. 2009 Oct-Dec ;2(4):350-60.

PubMed
Biochemicals associated with pain and inflammation are elevated in sites near to...
Biochemicals associated with pain and inflammation are elevated in sites near to and remote from active myofascial trigger points.
Arch Phys Med Rehabil. 2008 Jan ;89(1):16-23.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to:

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Related citations

Cited by 33 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information