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Voltage-Dependent Anion Channel 1(VDAC1) Participates the Apoptosis of the Mitochondrial Dysfunction in Desminopathy

Huanyin Li1, Lan Zheng1, Yanqing Mo1

  • 1Department of Internal Neurology, Central Hospital of Minhang District, Shanghai (Minhang Hospital, Fudan University), Minhang District, Shanghai, P.R.China.

Plos One
|December 13, 2016
PubMed

Insights

Desminopathies involve desmin gene mutations and mitochondrial dysfunction. This study links Voltage-dependent anion channel 1 (VDAC1) accumulation to desmin aggregation and apoptosis in desminopathies, providing a new rat model.

Area of Science:

  • Muscle biology
  • Mitochondrial research
  • Genetics of myopathies

Background:

  • Desminopathies are protein aggregation myopathies linked to desmin gene mutations.
  • Mitochondrial dysfunction is an early pathological feature, but its mechanisms remain unclear.
  • The role of Voltage-dependent anion channel 1 (VDAC1) in desminopathies is unknown.

Purpose of the Study:

  • To investigate the molecular mechanisms of mitochondrial dysfunction in desminopathies.
  • To explore the relationship between desmin, VDAC1, and apoptosis in desminopathies.
  • To establish a desminopathy rat model for further research.

Main Methods:

  • Construction and validation of a desminopathy rat model using various staining techniques (HE, MGT, PAS, ORO, NADH-TR, SDH) and immunohistochemistry.
  • Immunofluorescence analysis to detect VDAC1 and desmin colocalization in patient and rat muscle fibers.
  • Analysis of apoptosis-related proteins (Bax, ATF2, Bcl-2, Bcl-xl, HK2) expression.

Main Results:

  • VDAC1 accumulation was observed in desmin-rich areas of muscle fibers in desminopathy patients and the rat model.
  • Apoptosis-related proteins Bax and ATF2 were involved in desminopathies, while Bcl-2, Bcl-xl, and HK2 were not.
  • A significant correlation was found between VDAC1 and desmin at the protein level in desminopathies.

Conclusions:

  • VDAC1 accumulation is associated with desmin aggregation and contributes to mitochondrial dysfunction in desminopathies.
  • Apoptotic pathways involving Bax and ATF2 are implicated in the pathogenesis of desminopathies.
  • The developed rat model is valuable for studying desminopathies and related myopathies.

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