The extraocular muscles (EOM) are anatomically and physiologically distinct
from other striated muscles in mammals. Among other differences, they can
be driven to generate individual twitch contractions at an extremely high f
requency and are resistant to [Ca2+]-induced myonecrosis. While EOM are pre
ferentially targeted in some neuromuscular diseases such as myasthenia grav
is and congenital fibrosis of the extraocular muscles, they are enigmatical
ly spared in Duchenne's muscular dystrophy, despite the widespread damage s
een in all other skeletal muscle groups during the course of this disease.
To address the molecular mechanisms that specify the EOM-phenotype, we char
acterized the transcriptional profile of genes expressed in rat EOM versus
limb muscle using a differential display strategy. Ninety-five putative dif
ferentially expressed cDNA tags were cloned, from which fourteen were confi
rmed as being differentially expressed by RNA slot blot and Northern blot a
nalysis. Ten of these cDNAs were homologous to known human or murine genes
and ESTs, while four genes that were upregulated in EOM were novel, and hav
e been named expressed in ocular muscle (eom) 1-4. The identification of th
ese differentially expressed genes may provide mechanistic clues toward und
erstanding the unique patho-physiological phenotype of EOM. (C) 2000 Elsevi
er Science B.V. All rights reserved.