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Published Data
Gene expression comparison of
biopsies from Duchenne muscular dystrophy (DMD) and normal
skeletal muscle
Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA,
Kohane IS, Beggs AH, Kunkel LM. Proc Natl Acad Sci U S A.
2002 Nov 12;99(23):15000-5. Epub 2002 Nov 01.
[PMID:
12415109 [PubMed - indexed for MEDLINE]
Genetics Division and Genomics Program, Neurology Department,
Children's Hospital Boston and Harvard Medical School, Boston,
MA, 02115, USA.
Abstract
The primary cause of Duchenne muscular dystrophy (DMD) is
a mutation in the dystrophin gene leading to absence of the
corresponding RNA transcript and protein. Absence of dystrophin
leads to disruption of the dystrophin-associated protein complex
(DAPC) and substantial changes in skeletal muscle pathology.
Although the histological pathology of dystrophic tissue has
been well documented, the underlying molecular pathways remain
poorly understood. In order to examine the pathogenic pathways
and identify new or modifying factors involved in muscular
dystrophy, expression microarrays were used to compare individual
gene expression profiles of skeletal muscle biopsies from
twelve DMD patients and twelve unaffected control patients.
Two separate statistical analysis methods were used to interpret
the resulting data; t-test analysis to determine the statistical
significance of differential expression and geometric fold
change analysis to determine the extent of differential expression.
These analyses identified 105 genes that differ significantly
in expression level between unaffected and DMD muscle. Many
of the differentially expressed genes reflect changes in histological
pathology. For instance, immune response signals and extracellular
matrix genes are overexpressed in DMD muscle, an indication
of the infiltration of inflammatory cells and connective tissue.
Significantly more genes are overexpressed than underexpressed
in dystrophic muscle, with dystrophin underexpressed while
other genes encoding muscle structure and regeneration processes
are overexpressed, reflecting the regenerative nature of the
disease.
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