An experimental approach to study the function of mitochondria in cardiomyopathy

Abstract

Cardiomyopathy is an inherited or acquired disease of the myocardium, which can result in severe ventricular dysfunction. Mitochondrial dysfunction is involved in the pathological process of cardiomyopathy. Many dysfunctions in cardiac mitochondria are consequences of mutations in nuclear or mitochondrial DNA followed by alterations in transcriptional regulation, mitochondrial protein function, and mitochondrial dynamics and energetics, presenting with associated multisystem mitochondrial disorders. To ensure correct diagnosis and optimal management of mitochondrial dysfunction in cardiomyopathy caused by multiple pathogenesis, multidisciplinary approaches are required, and to integrate between clinical and basic sciences, ideal translational models are needed. In this review, we will focus on experimental models to provide insights into basic mitochondrial physiology and detailed underlying mechanisms of cardiomyopathy and current mitochondria-targeted therapies for cardiomyopathy. [BMB Reports 2015; 48(10): 541-548]

The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation

“…According to the previous reports, most of the deceased patients with COXPD-17 died from cardiomyopathy, and no accompanying cardiac anomalies were reported 5 6 7) . Whether the cardiac anomaly in our patient was associated with COXPD-17 is unclear, it is rather thought to be less relevant given that mitochondrial dysfunction can lead to myocardial remodeling, which manifests as hypertrophic or dilated cardiomyopathy, and sepal hypertrophy 12 13) . In our patient, the reason for the absence of cardiomyopathy was presumably because she was in a relatively stable condition with medication and respiratory support.…”

Mecanismos De Adaptación De La Actividad Mitocondrial en Respuesta a Estrés

“…La mitocondria de los cardiomiocitos adultos es hipo-dinámica; sin embargo, resultados recientes muestran que las proteínas de fusión y fisión son muy abundantes en este tejido (Ong et al, 2015) y parecen estar relacionadas con cardiomiopatías e insuficiencia cardiaca en modelos de mosca y ratón (Galloway and Yoon, 2015;Dorn, 2015). De hecho, la deleción de estas proteínas provoca fallos en las células cardiacas, debido a la generación de ROS y a defectos en la homeostasis de Ca 2+ (Chung and Kang, 2015). Finalmente, una disfunción de la dinámica de este orgánulo también se ha relacionado con la aparición de quimioresistencia al tratamiento de diferentes tipos de cáncer (Kong et al, 2015) y con un mayor daño hepático provocado por el alcohol (García-Ruiz et al, 2013).…”