Abnormalities of intracellular Ca2+ homeostasis and signalling as well as the down-regulation
of neurotrophic factors in several areas of the central nervous system and in peripheral
tissues are hallmarks of Huntington’s disease (HD). As there is no therapy for this hereditary,
neurodegenerative fatal disease, further effort should be made to slow the progression
of neurodegeneration in patients through the definition of early therapeutic interventions.
For this purpose, molecular biomarker(s) for monitoring disease onset and/or progression
and response to treatment need to be identified. In the attempt to contribute to the research
of peripheral candidate biomarkers in HD, we adopted a multiplex real-time PCR approach
to analyse the mRNA level of targeted genes involved in the control of cellular calcium homeostasis
and in neuroprotection. For this purpose we recruited a total of 110 subjects possessing
the HD mutation at different clinical stages of the disease and 54 sex- and agematched
controls. This study provides evidence of reduced transcript levels of sarco-endoplasmic
reticulum-associated ATP2A2 calcium pump (SERCA2) and vascular endothelial
growth factor (VEGF) in peripheral blood mononuclear cells (PBMCs) of manifest and premanifest
HD subjects. Our results provide a potentially new candidate molecular biomarker
for monitoring the progression of this disease and contribute to understanding some early
events that might have a role in triggering cellular dysfunctions in HD.
