title: Gene expression in blood of subjects with Duchenne muscular dystrophy.
abstract: The objective of this study was to examine RNA expression in blood of subjects with Duchenne muscular dystrophy (DMD). Whole blood was collected into PAX gene tubes and RNA was isolated for 3- to 20-year-old males with DMD (n = 34) and for age- and gender-matched normal healthy controls (n = 21). DMD was confirmed by genetic testing in all subjects. RNA expression was measured on Affymetrix whole-genome human U133 Plus 2.0 GeneChips. Using a Benjamini-Hochberg false discovery rate of 0.05 to correct for multiple comparisons, an unpaired t test for DMD versus controls yielded 10,763 regulated probes with no fold change cutoff, 1,467 probes with >|1.5|-fold change, 191 probes with >|2.0|-fold change, and 59 probes with a >|2.5|-fold change. These genes (probes) separated DMD from controls using cluster analyses. Almost all of the genes regulated in peripheral blood were different from the genes reported to be regulated in diseased muscle of subjects with DMD. It is proposed that the genes regulated in blood of subjects with Duchenne muscular dystrophy are indicative, at least in part, of the immune response to the diseased DMD muscle. The regulated genes might be used to monitor therapy or provide novel targets for immune-directed therapy for DMD.
authors.affiliation: Department of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors.forename: Brenda
authors.initials: B
authors.lastname: Wong
authors.forename: Donald L
authors.initials: DL
authors.lastname: Gilbert
authors.forename: Wynn L
authors.initials: WL
authors.lastname: Walker
authors.forename: Isaac H
authors.initials: IH
authors.lastname: Liao
authors.forename: Lisa
authors.initials: L
authors.lastname: Lit
authors.forename: Boryana
authors.initials: B
authors.lastname: Stamova
authors.forename: Glen
authors.initials: G
authors.lastname: Jickling
authors.forename: Michelle
authors.initials: M
authors.lastname: Apperson
authors.forename: Frank R
authors.initials: FR
authors.lastname: Sharp
mesh_terms: D000293:Adolescent; D002465:Cell Movement / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D015870:Gene Expression; D020869:Gene Expression Profiling; D006801:Humans; D007962:Leukocytes / Q000166:cytology / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D055815:Young Adult