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Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome

Shih-Jie Chou1, Wei-Lien Tseng1,2, Chien-Tsun Chen3

  • 1Institute of Pharmacology, Taipei, Taiwan.

Scientific Reports
|March 31, 2016
PubMed

Insights

Myoclonus epilepsy with ragged-red fibers (MERRF) syndrome, caused by an mtDNA mutation, leads to mitochondrial dysfunction. Patient-derived stem cells show impaired growth, increased oxidative stress, and abnormal mitochondria in heart and neural cells.

Area of Science:

  • Mitochondrial genetics
  • Cellular biology
  • Neuroscience

Background:

  • Myoclonus epilepsy with ragged-red fibers (MERRF) is a mitochondrial disorder.
  • It is primarily caused by an A8344G mutation in the mitochondrial tRNA(Lys) gene.
  • The precise mechanisms of mitochondrial dysfunction in MERRF, particularly in cardiomyocytes and neurons, are not fully understood.

Purpose of the Study:

  • To investigate the impact of the MERRF-associated A8344G mutation on mitochondrial function and cellular behavior.
  • To characterize mitochondrial abnormalities in patient-derived induced pluripotent stem cells (hiPSCs) and their differentiated progeny (cardiomyocytes and neural progenitor cells).

Main Methods:

  • Generation of MERRF-patient-derived hiPSCs carrying the A8344G mutation.
  • Comparison of MERRF-hiPSCs with isogenic, mutation-free hiPSCs.
  • Differentiation of hiPSCs into cardiomyocyte-like cells (MERRF-CMs) and neural progenitor cells (MERRF-NPCs).
  • Assessment of cellular respiration (oxygen consumption), reactive oxygen species (ROS) production, cell growth, mitochondrial morphology (MitoTracker Red, electron microscopy), and antioxidant gene expression.

Main Results:

  • MERRF-hiPSCs exhibited reduced oxygen consumption, elevated ROS production, impaired growth, and fragmented mitochondria compared to controls.
  • Differentiated MERRF-CMs and MERRF-NPCs also showed increased ROS levels and altered antioxidant gene expression.
  • Both MERRF-hiPSCs and their differentiated cells displayed mitochondria with abnormal ultrastructure.

Conclusions:

  • The A8344G mutation in MERRF syndrome leads to significant mitochondrial dysfunction.
  • This dysfunction manifests as increased oxidative stress and abnormal mitochondrial morphology in patient-derived stem cells and their differentiated cardiac and neural lineages.
  • These findings provide insights into the cellular mechanisms underlying MERRF syndrome.

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