Expression profiling reveals metabolic and structural components of extraocular muscles

M. Dominik Fischer, J. Rafael Gorospe, Edward Felder, Sasha Bogdanovich, F. Pedrosa-Domellöf, Rexford S. Ahima, Neal A. Rubinstein, Eric P. Hoffman, Tejvir S. Khurana*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

92 Scopus citations

Abstract

The extraocular muscles (EOM) are anatomically and physiologically distinct from other skeletal muscles. EOM are preferentially affected in mitochondrial myopathies, but spared in Duchenne's muscular dystrophy. The anatomical and pathophysiological properties of EOM have been attributed to their unique molecular makeup: an allotype. We used expression profiling to define molecular features of the EOM allotype. We found 346 differentially expressed genes in rat EOM compared with tibialis anterior, based on a twofold difference cutoff. Genes required for efficient, fatigue-resistant, oxidative metabolism were increased in EOM, whereas genes for glycogen metabolism were decreased. EOM also showed increased expression of genes related to structural components of EOM such as vessels, nerves, mitochondria, and neuromuscular junctions. Additionally, genes related to specialized functional roles of EOM such as the embryonic and EOM-specific myosin heavy chains and genes for muscle growth, development, and/or regeneration were increased. The EOM expression profile was validated using biochemical, structural, and molecular methods. Characterization of the EOM expression profile begins to define gene transcription patterns associated with the unique anatomical, metabolic, and pathophysiological properties of EOM.

Original languageEnglish (US)
Pages (from-to)71-84
Number of pages14
JournalPhysiological genomics
Volume2002
Issue number9
DOIs
StatePublished - Jul 2002

Keywords

  • Allotype
  • Energy metabolism
  • Expression profile
  • Extraocular muscle
  • Transcriptome

ASJC Scopus subject areas

  • Physiology
  • Genetics

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