Abstract
The objective of this study was to perform global gene expression profiling of patients affected by narcolepsy
with cataplexy (NRLCP). This enabled identifying new potential biomarkers and relevant molecules possibly
involved in the disease pathogenesis. In this study 10 NRLCP patients with 10 healthy controls were compared.
Total RNA isolated from blood specimens was analyzed using microarray technology followed by statistical data
analysis to detect genome-wide differential gene expression between patients and controls. Functional analysis of
the gene list was performed in order to interpret the biological significance of the data. One hundred and
seventy-three genes showed significant (p < 0.01) differential expression between the two tested conditions.
The biological interpretation allowed categorizing differentially expressed genes involved in neurite outgrowth/
extension and brain development, which could be possibly regarded as peripheral markers of the disease. Moreover,
the NRLCP-related gene expression profiles indicated a dysregulation of metabolic and immune-related
mechanisms. In conclusion, the gene expression profile associated to NRLCP suggested that molecular markers
of neurological impairment, dysmetabolic and immune-related mechanisms, can be detected in blood of
NRLCP patients.
| Original language | English |
|---|---|
| Pages (from-to) | 171-181 |
| Number of pages | 11 |
| Journal | Gene Expression Patterns |
| DOIs | |
| Publication status | Published - 2012 |
Keywords
- Cataplexy
- Gene expression
- Microarray
- Narcolepsy