Gene expression profile in fibroblasts of Huntington's disease patients and controls.

Huntington's disease is an inherited disorder caused by expanded stretch of consecutive trinucleotides (cytosine–
adenosine–guanine, CAG) within the first exon of the huntingtin (HTT) gene on chromosome 4 (p16.3).
Themutated huntingtin (mHTT) gains toxic function, probably through mechanisms that involve aberrant interactions
in several pathways, causing cytotoxicity. Pathophysiology of disease involves several tissues; indeed it
has been shown that there is a broad toxic effect of mHTT in the peripheral tissue of patients with HD, not
only in the central nervous system. In this study we compared gene expression profiles (GEP) of HD fibroblasts
and matched controls using microarray technology. We used RT-PCR to test the consistency of the microarray
data and we found four genes up-regulated in HD patients with respect to control individuals. The genes appear
to be involved in different pathways that have been shown to be perturbed even in HDmodels and patients. Although
our study is preliminary and has to be extended to a larger cohort of HD patients and controls, nevertheless
it shows that gene expression profiles seem to be altered in the fibroblasts of HD patients. Validation of the
differential expressions at the protein level is required to ascertain if this cell type can be considered a suitable
model for the identification of HD biomarkers