Nuclear genes causing mitochondrial cardiomyopathy

Stephanie M. Ware, Jeffrey Towbin

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The heart is one of the major energy-consuming organs. Consequently, cardiac muscle dysfunction is a common but underrecognized feature of mitochondrial disease. Patients with mitochondrial disease and cardiac involvement have higher morbidity and mortality. Early recognition and prompt treatment of cardiac symptoms can significantly impact recovery and limit disease progression. Mutations in the X-linked gene TAZ cause Barth syndrome, a disorder characterized by dilated cardiomyopathy, neutropenia, growth retardation, and 3-methlyglutaconic aciduria. An undulating cardiac phenotype is common in many mitochondrial cardiomyopathies including Barth syndrome, with phenotypes alternating between hypertrophic and dilated forms. Left ventricular noncompaction, a developmental arrest of the myocardium, may be seen in isolation or in combination with other cardiomyopathy phenotypes. Four additional nuclear genes known to cause mitochondrial cardiomyopathy by disparate mechanisms are SLC25A3, SURF1, SCO2, and TMEM70. In addition, secondary cardiac mitochondrial dysfunction is a common finding in patients with end-stage heart failure, aging, ischemia, and diabetes. Consequently, there is substantial interest in the identification of therapy for both primary and secondary cardiac mitochondrial dysfunction.

Original languageEnglish (US)
Title of host publicationMitochondrial Disorders Caused by Nuclear Genes
PublisherSpringer New York
Pages319-335
Number of pages17
Volume9781461437222
ISBN (Electronic)9781461437222
ISBN (Print)1461437210, 9781461437215
DOIs
StatePublished - Mar 1 2013
Externally publishedYes

Fingerprint

Mitochondrial Genes
Barth Syndrome
Cardiomyopathies
Mitochondrial Diseases
Genes
Phenotype
Myocardium
X-Linked Genes
Dilated Cardiomyopathy
Medical problems
Neutropenia
Muscle
Disease Progression
Ischemia
Heart Failure
Aging of materials
Morbidity
Recovery
Mutation
Mortality

All Science Journal Classification (ASJC) codes

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Ware, S. M., & Towbin, J. (2013). Nuclear genes causing mitochondrial cardiomyopathy. In Mitochondrial Disorders Caused by Nuclear Genes (Vol. 9781461437222, pp. 319-335). Springer New York. https://doi.org/10.1007/978-1-4614-3722-2_20

Nuclear genes causing mitochondrial cardiomyopathy. / Ware, Stephanie M.; Towbin, Jeffrey.

Mitochondrial Disorders Caused by Nuclear Genes. Vol. 9781461437222 Springer New York, 2013. p. 319-335.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ware, SM & Towbin, J 2013, Nuclear genes causing mitochondrial cardiomyopathy. in Mitochondrial Disorders Caused by Nuclear Genes. vol. 9781461437222, Springer New York, pp. 319-335. https://doi.org/10.1007/978-1-4614-3722-2_20
Ware SM, Towbin J. Nuclear genes causing mitochondrial cardiomyopathy. In Mitochondrial Disorders Caused by Nuclear Genes. Vol. 9781461437222. Springer New York. 2013. p. 319-335 https://doi.org/10.1007/978-1-4614-3722-2_20
Ware, Stephanie M. ; Towbin, Jeffrey. / Nuclear genes causing mitochondrial cardiomyopathy. Mitochondrial Disorders Caused by Nuclear Genes. Vol. 9781461437222 Springer New York, 2013. pp. 319-335
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