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Related Experiment Video

Updated: May 31, 2026

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
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Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

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Altered mitochondrial function in type 2 granular corneal dystrophy.

Tae-im Kim1, Hanna Kim, Doo Jae Lee

  • 1Corneal Dystrophy Research Institute, the Department of Ophthalmology, Yonsei University College of Medicine, Seoul, South Korea.

The American Journal of Pathology
|June 25, 2011
PubMed
Summary
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Type 2 granular corneal dystrophy (GCD2) involves mutations in the TGFBI gene, leading to mitochondrial dysfunction in corneal cells. Antioxidant treatment can mitigate these effects, offering insights into GCD2 pathogenesis.

Area of Science:

  • Ophthalmology
  • Cell Biology
  • Genetics

Background:

  • Type 2 granular corneal dystrophy (GCD2) is a genetic disorder caused by R124H mutation in the TGFBI gene.
  • It is characterized by progressive corneal deposits and age-dependent severity.

Purpose of the Study:

  • To investigate mitochondrial alterations in corneal fibroblasts from GCD2 patients.
  • To understand the role of mitochondrial dysfunction in GCD2 pathogenesis.

Main Methods:

  • Electron microscopy was used to examine mitochondrial morphology in GCD2 and normal corneal tissues.
  • Primary corneal fibroblasts were cultured, and mitochondrial activity was assessed using MitoTracker and cytochrome c staining.
  • Expression of key proteins (PGC-1α, ANT-1, p-Akt, p-mTOR, NF-κB) and reactive oxygen species (ROS) levels were analyzed.

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Main Results:

  • GCD2 fibroblasts showed degenerative mitochondria and increased mitochondrial activity at early passages.
  • Late-passage GCD2 cells exhibited decreased mitochondrial function, reduced proliferation, and increased apoptosis.
  • Antioxidant treatment (butylated hydroxyanisole) partially restored proliferation and reduced ROS levels.

Conclusions:

  • Mitochondrial structure and function are significantly altered in GCD2 keratocytes, particularly with increasing cell passage.
  • Mitochondrial dysfunction is a critical factor in the pathogenesis of Type 2 granular corneal dystrophy.