ArticleHeart (British Cardiac Society)1998
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.
Article in Heart (British Cardiac Society), 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 73 citations in OpenAlex.
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Mavacamten inhibits myosin activity by stabilizing the myosin interacting-heads motif and stalling motor force generation.Science advances · 2026Article
- Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer.Balkan journal of medical genetics : BJMG · 2023Article
- Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.International journal of molecular sciences · 2021Review
- Whole mitochondrial genome analysis in Chinese patients with keratoconus.Molecular vision · 2021Article
- Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2020Article
- RNA Sequence Analyses throughout the Course of Mouse Cardiac Laminopathy Identify Differentially Expressed Genes for Cell Cycle Control and Mitochondrial Function.Scientific reports · 2020Article
- Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.Cell metabolism · 2019Article
- Mitochondrial Function, Biology, and Role in Disease: A Scientific Statement From the American Heart Association.Circulation research · 2016Review
- Cardiovascular Disease, Mitochondria, and Traditional Chinese Medicine.Evidence-based complementary and alternative medicine : eCAM · 2015Review
- Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.PloS one · 2015Article
- The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.Journal of medical genetics · 2014Article
- MT-CYB mutations in hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2013Article
- Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Vulnerable myocardial interstitium in patients with isolated left ventricular hypertrophy and sudden cardiac death: a postmortem histological evaluation.Journal of the American Heart Association · 2012Article
- Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.European journal of human genetics : EJHG · 2011Article
- Hypertrophic cardiomyopathy in childhood.Heart failure clinics · 2010Review
- Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing.PloS one · 2010Article
- Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.Journal of medical genetics · 2006Article
- Identification of a new missense mutation in the mtDNA of hereditary hypertrophic, but not dilated cardiomyopathic hamsters.Molecular and cellular biochemistry · 2003Article
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the possible coexistence of mitochondrial DNA (mtDNA) mutations in patients with beta myosin heavy chain (beta MHC) linked hypertrophic cardiomyopathy (HCM) who develop congestive heart failure.
designMolecular analysis of beta MHC and mtDNA gene defects in patients with HCM.
settingCardiovascular molecular diagnostic and heart transplantation reference centre in north Italy. PATIENTS: Four patients with HCM who underwent heart transplantation for end stage heart failure, and after pedigree analysis of 60 relatives, eight additional affected patients and 27 unaffected relatives. A total of 111 unrelated healthy adult volunteers served as controls. Disease controls included an additional 27 patients with HCM and 102 with dilated cardiomyopathy.
interventionMolecular analysis of DNA from myocardial and skeletal muscle tissue and from peripheral blood specimens.
main outcome measuresScreening for mutations in beta MHC (exons 3-23) and mtDNA tRNA (n = 22) genes with denaturing gradient gel electrophoresis or single strand conformational polymorphism followed by automated DNA sequencing.
resultsOne proband (kindred A) (plus seven affected relatives) had arginine 249 glutamine (Arg249Gln) beta MHC and heteroplasmic mtDNA tRNAIle A4300G mutations. Another unrelated patient (kindred B) with sporadic HCM had identical mutations. The remaining two patients (kindred C), a mother and son, had a novel beta MHC mutation (lysine 450 glutamic acid) (Lys450Glu) and a heteroplasmic missense (T9957C, phenylalanine (Phe)-->leucine (Leu)) mtDNA mutation in subunit III of the cytochrome C oxidase gene. The amount of mutant mtDNA was higher in the myocardium than in skeletal muscle or peripheral blood and in affected patients than in asymptomatic relatives. Mutations were absent in the controls. Pathological and biochemical characteristics of patients with mutations Arg249Gln plus A4300G (kindreds A and B) were identical, but different from those of the two patients with Lys450Glu plus T9957C(Phe-->Leu) mutations (kindred C). Cytochrome C oxidase activity and histoenzymatic staining were severely decreased in the two patients in kindreds A and B, but were unaffected in the two in kindred C.
conclusionsbeta MHC gene and mtDNA mutations may coexist in patients with HCM and end stage congestive heart failure. Although beta MHC gene mutations seem to be the true determinants of HCM, both mtDNA mutations in these patients have known prerequisites for pathogenicity. Coexistence of other genetic abnormalities in beta MHC linked HCM, such as mtDNA mutations, may contribute to variable phenotypic expression and explain the heterogeneous behaviour of HCM.
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