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Physiol. Genomics (March 5, 2002). doi:10.1152/physiolgenomics.00115.2001
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Articles in PresS, published online ahead of print March 5, 2002
Physiol Genomics, 10.1152/physiolgenomics.00115.2001
Submitted on December 10, 2001
Accepted on March 1, 2002

Expression profiling reveals metabolic and structural components of extraocular muscles

M. Dominik Fischer1, J. Rafael Gorospe2, Edward Felder3, Sasha Bogdanovich1, Fatima Pedrosa-Domellof4, Rexford S Ahima5, Neal A Rubinstein3, Eric P Hoffman2, and Tejvir S Khurana1*

1 Department of Physiology & Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
2 Research Center for Genetic Medicine, Children's National Medical Center, George Washington University, Washington, DC, USA
3 Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
4 Department of Integrative Medical Biology, Section of Anatomy, Umea University, Umea, Sweden
5 Division of Endocrinology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

* To whom correspondence should be addressed. E-mail: tsk{at}mail.med.upenn.edu.

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 patho-physiological 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 to tibialis anterior, based on a 2-fold difference cutoff. Genes required for efficient, fatigue resistant, oxidative metabolism were increased in EOM, while 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 EOM specific myosin heavy chain 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 patho-physiological properties of EOM.




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