Blood gene expression profiling of neurologic diseases: a pilot microarray study.
BACKGROUND
Tissue gene expression profiling with arrays measures the transcription of thousands of genes. However, this approach cannot be readily used to guide clinical neurologic practice.


OBJECTIVE
To determine whether clinical neurologic diseases are associated with unique patterns of up- and down-regulated genes in whole blood and to explore the possibility of using peripheral blood as a surrogate tissue in these diseases.


METHODS
Case-control study.


METHODS
University-based pediatric and adult neurology clinics.


METHODS
Patients with neurofibromatosis type 1, epilepsy, or Tourette syndrome diagnosed using traditional clinical criteria; controls without disease; and controls with neurologic disease.


METHODS
Blood gene expression levels of greater than 12,000 genes, measured using U95A arrays.


RESULTS
Neurofibromatosis type 1 and childhood epilepsy treated with carbamazepine or valproic acid are associated with distinct patterns of blood gene expression. Patients with valproic acid-responsive vs valproic acid-refractory epilepsy formed distinct subclusters. Tourette syndrome was characterized by several gene expression clusters. In 1 cluster, 6 genes-all associated with immune cell function-were overexpressed.


CONCLUSIONS
Blood gene expression profiling can provide surrogate markers for neurologic diseases without obvious blood phenotypes.
Tang
Yang
Y
Department of Neurology and Neuroscience Program, University of Cincinnati, OH, USA.
Gilbert
Donald L
DL
Glauser
Tracy A
TA
Hershey
Andrew D
AD
Sharp
Frank R
FR
D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D016000:Cluster Analysis; D004827:Epilepsy / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D008875:Middle Aged; D009422:Nervous System Diseases / Q000097:blood* / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D010865:Pilot Projects; D005879:Tourette Syndrome / Q000235:genetics