The intriguing role of bitter taste receptors TAS2R38 in primary ciliary dyskinesia “PCD”

PCD is a rare genetic disease due to malfunctioning and/or altered ultrastructure of motile cilia leading to recurrent respiratory infections of upper an Chronic rhinosinusitis and bronchiectasis are very common in PCD patients. Recently, it has been shown the presence of taste receptors in the respirat possible involvement of bitter taste recepto rTAS2R38 gene, in susceptibility to respiratory infections and rhinosinusitisT. he aim of this study is to eval of TAS2R38 polymorphisms in PCD patients and their possible correlations with clinical outcomes of the diseaseG.e netic and phenotypic data of 35 P collected. Clinical evaluation includes: number of respiratory infections per year and pathogens; Lund McKay score; number of lung lobes involved; mod As regards genetic data, 3 polymorphisms (rs1726866,rs713598,rs10246939) withiTnA S2R38 gene were analyzed and patients classified as PAV/PA AVI/AVI. A significant difference in the distribution of TAS2R38 haplotype between patients with and without neonatal respiratory distress emerged ( particular, a lower percentage of PAV/PAV individuals showed a high number of pulmonary exacerbations (≥ 2/year) (p-value=0.04) compared to those AVI/PAV haplotypes. Moreover, no patients homozygous for PAV/PAV haplotype presented with any chronic colonization bPsye udomonas aeruginosa th possible role of TAS2R38 in susceptibility to respiratory infections.I n conclusion, here we report, for the first time, a possible association oTf AS2R38 p PCD phenotype. A larger collection of patients is in progress and updated results will be presented and discussed.