A Genetic Basis for Mechanosensory Traits in Humans

Hearing and touch are genetically related, and people with excellent hearing are more likely to have a fine sense of touch and vice versa

Touch sensitivity in a cohort of Braille reading blind people.

<p>The vibration detection threshold was not different in comparison to a control cohort, but the tactile acuity was significantly higher in the blind cohort. *** <i>p</i><0.001; <i>t</i> test.</p

Touch sensitivity in different cohorts of people suffering from the Usher syndrome.

<p>The mean tactile acuity and vibration detection thresholds were elevated in the group of people carrying pathogenic mutations in the gene USH2A (A, B) but not in a cohort of Usher syndrome type II patients with unknown genotype where tactile acuity thresholds were lower than in the control cohort (D), and vibration detection thresholds were not significantly different (C). ^ns, not significant; * <i>p</i><0.05 Student's <i>t</i> test.</p

Cross-twin correlations and heritability estimates of baroreflex traits.

<p>For both baroreflex traits—baroreflex sequence slope (A) and baroreflex sequence frequency (B)—the cross-twin correlations were higher in MZ than in DZ twins. Significant heritability estimates could be calculated. <i>r</i>, intra-class correlation; <i>h²</i>, heritability estimate; 95% confidence interval in brackets; AE, preferred model used to estimate heritability.</p

Cross-correlations between the investigated sensory traits.

<p>Three different types of intramodal and intermodal correlations were distinguished (A). Three mechanosensory and one non-mechanosensory intermodal correlation were detected (B). ^ns, not significant; * <i>p</i><0.05; ** <i>p</i><0.01; *** <i>p</i><0.001. False discovery rates for <i>p</i> value cutoff at 0.05 for (1) intramodal correlations: 0.004, (2) mechanosensory intermodal correlations: 0.14, and (3) non-mechanosensory intermodal correlations: 0.83. Values were corrected for age before analysis.</p

Summary of psychophysical and physiological tests carried out in different cohorts.

<p>Summary of psychophysical and physiological tests carried out in different cohorts.</p

Cross-twin correlations and heritability estimates (where applicable) of temperature sensitivity traits.

<p>For all traits except the cold pain threshold, the cross-twin correlations were higher in MZ than in DZ twins. Significant heritability estimates could be calculated for cold (A) and warmth (B) detection thresholds, whereas for the heat (C) and cold (D) pain thresholds, the CE model, not containing a heritable component, was preferred. <i>r</i>, intra-class correlation; <i>h²</i>, heritability estimate; 95% confidence interval in brackets; AE/CE, preferred model used to estimate heritability.</p

Cross-twin correlations and heritability estimates of touch sensitivity traits.

<p>For both vibration detection threshold (A) and tactile acuity (B) cross-twin correlations were higher in monozygotic (MZ) than in dizygotic (DZ) twins and significant heritability values could be estimated. <i>r</i>, intra-class correlation; <i>h²</i>, heritability estimate; 95% confidence interval in brackets; AE, preferred model used to estimate heritability.</p

Cross-twin correlations and heritability estimates of hearing traits.

<p>For all three hearing traits—pure tone thresholds (A), otoacoustic emission reproducibility (B), and otoacoustic emission strength (C)—cross-twin correlations were higher in MZ than in DZ twins, and very high heritability values could be estimated. <i>r</i>, intra-class correlation; <i>h²</i>, heritability estimate; 95% confidence interval in brackets; AE, preferred model used to estimate heritability.</p

Development of a Staphylococcus aureus reporter strain with click beetle red luciferase for enhanced in vivo imaging of experimental bacteremia&nbsp;and mixed infections.

In vivo bioluminescence imaging has been used to monitor Staphylococcus aureus infections in preclinical models by employing bacterial reporter strains possessing a modified lux operon from Photorhabdus luminescens. However, the relatively short emission wavelength of lux (peak 490 nm) has limited tissue penetration. To overcome this limitation, the gene for the click beetle (Pyrophorus plagiophtalamus) red luciferase (luc) (with a longer &gt;600 emission wavelength), was introduced singly and in combination with the lux operon into a methicillin-resistant S. aureus strain. After administration of the substrate D-luciferin, the luc bioluminescent signal was substantially greater than the lux signal in vitro. The luc signal had enhanced tissue penetration and improved anatomical co-registration with infected internal organs compared with the lux signal in a mouse model of S. aureus bacteremia with a sensitivity of approximately 3 × 104 CFU from the kidneys. Finally, in an in vivo mixed bacterial wound infection mouse model, S. aureus luc signals could be spectrally unmixed from Pseudomonas aeruginosa lux signals to noninvasively monitor the bacterial burden of both strains. Therefore, the S. aureus luc reporter may provide a technological advance for monitoring invasive organ dissemination during S. aureus bacteremia and for studying bacterial dynamics during mixed infections