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GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.

Reema Singh1, Ranjana Arya2

  • 1School of Biotechnology, Jawaharlal Nehru University, New Delhi, 110067, India.

Molecular Neurobiology
|May 16, 2015
PubMed
Summary

Mutations in the UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) gene cause GNE myopathy by inducing mitochondria-dependent cell apoptosis. This study reveals GNE

Keywords:
Cell apoptosisGNE myopathyHereditary inclusion body myopathy (HIBM)MitochondriaProliferationSialic acid

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Background:

  • GNE myopathy is a progressive neurodegenerative disorder linked to mutations in the UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) gene.
  • The precise mechanisms by which GNE mutations lead to muscle degeneration are not fully understood.
  • Potential mechanisms include hyposialylation, cytoskeletal defects, sarcomere disorganization, and apoptosis.

Purpose of the Study:

  • To investigate the role of GNE in cell apoptosis using a HEK cell-based model.
  • To elucidate the pathomechanism of GNE myopathy by examining GNE's impact on apoptosis signaling and mitochondrial function.

Main Methods:

  • Overexpression of pathogenic GNE mutations in HEK cells.
  • Assessment of sialic acid levels, cell proliferation, and apoptosis using annexin V-FITC and TUNEL assays.
  • Analysis of caspase activation, PARP cleavage, mitochondrial morphology, and transmembrane potential.

Main Results:

  • GNE mutant cells showed reduced sialic acid-bound glycoconjugates and impaired cell proliferation.
  • Increased apoptosis, caspase activation, and PARP cleavage were observed in GNE mutant cell lines.
  • Mitochondrial morpho-structural changes and altered transmembrane potential were detected in cells with non-functional GNE.

Conclusions:

  • UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) plays a crucial role in mitochondria-dependent cell apoptosis.
  • These findings provide significant insights into the molecular mechanisms underlying GNE myopathy pathogenesis.