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Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

Emma Tabe Eko Niba1, Hiroyuki Awano2, Tomoko Lee3

  • 1Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.

Life (Basel, Switzerland)
|September 28, 2021
PubMed

Insights

Duchenne muscular dystrophy (DMD) involves mitochondrial dysfunction. This study found dystrophin, specifically Dp71 subisoforms, present in human mitochondria, offering new insights into DMD pathology.

Area of Science:

  • Cell Biology
  • Molecular Biology
  • Genetics

Background:

  • Duchenne muscular dystrophy (DMD) is a fatal genetic disorder caused by dystrophin deficiency.
  • Mitochondrial dysfunction is a key factor in DMD pathology.
  • The presence and role of dystrophin in human mitochondria remain unexplored.

Purpose of the Study:

  • To investigate the presence and localization of dystrophin within human mitochondria.
  • To analyze dystrophin subisoforms and their corresponding mRNA in various human cell types.
  • To examine mitochondrial Dp71 expression in myocytes from patients with dystrophinopathies.

Main Methods:

  • Magnetic-associated cell sorting (MACS) for mitochondrial fraction isolation.
  • Reverse transcription polymerase chain reaction (RT-PCR) for mRNA analysis.
  • Western blotting using a C-terminal dystrophin antibody for protein detection.

Main Results:

  • Dystrophin, specifically Dp71b and Dp71ab subisoforms, was detected in mitochondrial fractions of HEK293, HeLa, SH-SY5Y, CCL-136, and HepG2 cells.
  • Corresponding dystrophin mRNAs for Dp71b and Dp71ab were identified in these cell lines.
  • Primary cultured myocytes from dystrophinopathy patients showed varying levels of mitochondrial Dp71, with higher expression in Becker muscular dystrophy (BMD) patient-derived myocytes.

Conclusions:

  • Dystrophin, particularly Dp71 subisoforms, is localized to human mitochondria.
  • The findings suggest a novel role for mitochondrial dystrophin in DMD and related muscular dystrophies.
  • Differential expression of mitochondrial Dp71 in patient-derived myocytes warrants further investigation into its functional significance.
Keywords:
Dp71 subisoformsDuchenne muscular dystrophydystrophinmitochondria

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