ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
New targets for monitoring and therapy in Barth syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 42 citations in OpenAlex.
- Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.Orphanet journal of rare diseases · 2022Trial
- Neutropenia in Barth syndrome: characteristics, risks, and management.Current opinion in hematology · 2019Trial
- Cardiolipin remodelling in mitochondrial therapeutics: translational evidence chains from elamipretide to emerging strategies.Frontiers in physiology · 2026Review
- Barth Syndrome:Genes · 2025Review
- Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.Human molecular genetics · 2025Article
- A novelFrontiers in pediatrics · 2025Article
- A Barth Syndrome Patient-DerivedInternational journal of molecular sciences · 2024Article
- Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy.Frontiers in molecular medicine · 2024Article
- Phenotypic Characterization of MaleBiomedicines · 2023Article
- Stimulating the sir2-spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome.Disease models & mechanisms · 2022Article
- Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults.Orphanet journal of rare diseases · 2021Article
- Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.Molecular and cellular biochemistry · 2021Review
- Review
- Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.Orphanet journal of rare diseases · 2019Article
- Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.Orphanet journal of rare diseases · 2019Article
- Barth syndrome: mechanisms and management.The application of clinical genetics · 2019Article
- Drosophila tafazzin mutants have impaired exercise capacity.Physiological reports · 2018Article
- Article
- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study.JIMD reports · 2018Article
- Cardiolipin in Central Nervous System Physiology and Pathology.Cellular and molecular neurobiology · 2017Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBarth syndrome (BTHS), an X-linked disorder caused by defects in TAZ, is the only known single-gene disorder of cardiolipin remodeling. We hypothesized that through analysis of affected individuals, we would gain a better understanding of the range of clinical features and identify targets for monitoring and therapy.
methodsWe conducted a multidisciplinary investigation involving 42 patients with BTHS, including echocardiograms, muscle strength testing, functional exercise capacity testing, physical activity assessments, cardiolipin analysis, 3-methylglutaconic acid analysis, and review of genotype data. We analyzed data points to provide a quantitative spectrum of disease characteristics and to identify relationships among phenotype, genotype, and relevant metabolites.
resultsEchocardiography revealed considerable variability in cardiac features. By contrast, almost all patients had significantly reduced functional exercise capacity. Multivariate analysis revealed significant relationships between cardiolipin ratio and left ventricular mass and between cardiolipin ratio and functional exercise capacity. We additionally identified genotypes associated with a less severe metabolic and clinical profile.
conclusionWe defined previously unrecognized metabolite/phenotype/genotype relationships, established targets for therapeutic monitoring, and validated avenues for clinical assessment. In addition to providing insight into BTHS, these studies also provide insight into the myriad of multifactorial disorders that converge on the cardiolipin pathway.Genet Med 18 10, 1001-1010.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.