Machado--Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease. We ...have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length is inversely correlated with the age of onset (r = -0.87). The MJD chromosomes contained 61-84 repeat units, whereas normal chromosomes displayed 14-34 repeats. In the normal chromosomes, 14 repeat units were the most common and the shortest. In association with the clinical anticipation of the disease, a parent--child analysis showed the unidirectional expansion of CAG repeats and no case of diminution in the affected family. The differences in CAG repeat length between parent and child and between siblings are greater in paternal transmission than in maternal transmission. Detailed analysis revealed that a large degree of expansion was associated with a shorter length of MJD1 gene in paternal transmission. On the other hand, the increments of increase were similar for shorter and longer expansion in maternal transmission. Among the three clinical subtypes, type I of MJD, with dystonia, showed a larger degree of expansion in CAG repeats of the gene and younger ages of onset than the other types.
Summary
The mechanisms by which pulmonary granuloma formation is caused by administration of mycobacterial glycolipids such as trehalose dimycolate (TDM), lipoarabinomannan (LAM) and ...phosphatidylinositol mannosides (PIM) were investigated. When peritoneal and alveolar macrophages were stimulated with TDM, LAM and PIM in vitro, TDM exhibited the strongest tumour necrosis factor (TNF)‐inducing activity. Responsiveness of macrophages from mice defected Toll‐like receptor 4 (TLR4) was much higher than that of the wild‐type mice. Although PIM and LAM also had a significant activity, LAM rather than PIM stimulated higher TNF‐α production by alveolar macrophage. When mycobacterial glycolipids were injected as water‐in‐oil‐in‐water emulsion into mice via the tail vein, development of pulmonary granuloma in response to glycolipids were related closely to their TNF‐inducing activity and TDM exhibited the strongest activity. Granuloma formation was observed not only in mice lacking interleukin (IL)‐12 signalling but also interferon (IFN)‐γ knock‐out mice. Granuloma formation caused by glycolipids correlated with TNF‐α levels in lungs. Administration of anti‐TNF‐α monoclonal antibody into TDM‐injected IFN‐γ knock‐out mice decreased in granuloma formation, suggesting that development of pulmonary granuloma by mycobacterial glycolipids such as TDM is due to IFN‐γ‐independent and TNF‐α‐dependent pathway.
A picosecond x-ray laser speckle has been conducted to study the dynamics of a disordered surface domain structure (BaTiO3 with 90 degrees c/a domains) as a function of temperature for the first ...time. The transient surface structures induced by ferroelectric domains decrease as temperature increases towards the Curie temperature T(c) and completely disappear above T(c). The dramatic change of the spatial configuration of the c/a domains was observed to occur from a temperature 2 degrees C below T(c), near which the average correlated domain size at equilibrium decreases as (T(c)-T)(0.37+/-0.02).
Optimization of the first CUPID detector module Augier, C.; Balata, M.; Barabash, A. S. ...
The European physical journal. C, Particles and fields,
09/2022, Letnik:
82, Številka:
9
Journal Article
Recenzirano
Odprti dostop
CUPID will be a next generation experiment searching for the neutrinoless double
β
decay, whose discovery would establish the Majorana nature of the neutrino. Based on the experience achieved with ...the CUORE experiment, presently taking data at LNGS, CUPID aims to reach a background free environment by means of scintillating Li
2
100
MoO
4
crystals coupled to light detectors. Indeed, the simultaneous heat and light detection allows us to reject the dominant background of
α
particles, as proven by the CUPID-0 and CUPID-Mo demonstrators. In this work we present the results of the first test of the CUPID baseline module. In particular, we propose a new optimized detector structure and light sensors design to enhance the engineering and the light collection, respectively. We characterized the heat detectors, achieving an energy resolution of (5.9 ± 0.2) keV FWHM at the
Q
-value of
100
Mo (about 3034 keV). We studied the light collection of the baseline CUPID design with respect to an alternative configuration which features gravity-assisted light detectors’ mounting. In both cases we obtained an improvement in the light collection with respect to past measures and we validated the particle identification capability of the detector, which ensures an
α
particle rejection higher than 99.9%, fully satisfying the requirements for CUPID.
The possibility that neutrinos may be their own antiparticles, unique among the known fundamental particles, arises from the symmetric theory of fermions proposed by Ettore Majorana in 1937
. Given ...the profound consequences of such Majorana neutrinos, among which is a potential explanation for the matter-antimatter asymmetry of the universe via leptogenesis
, the Majorana nature of neutrinos commands intense experimental scrutiny globally; one of the primary experimental probes is neutrinoless double beta (0νββ) decay. Here we show results from the search for 0νββ decay of
Te, using the latest advanced cryogenic calorimeters with the CUORE experiment
. CUORE, operating just 10 millikelvin above absolute zero, has pushed the state of the art on three frontiers: the sheer mass held at such ultralow temperatures, operational longevity, and the low levels of ionizing radiation emanating from the cryogenic infrastructure. We find no evidence for 0νββ decay and set a lower bound of the process half-life as 2.2 × 10
years at a 90 per cent credibility interval. We discuss potential applications of the advances made with CUORE to other fields such as direct dark matter, neutrino and nuclear physics searches and large-scale quantum computing, which can benefit from sustained operation of large payloads in a low-radioactivity, ultralow-temperature cryogenic environment.
The CUORE experiment is a ton-scale array of
TeO
2
cryogenic bolometers located at the underground Laboratori Nazionali del Gran Sasso of Istituto Nazionale di Fisica Nucleare (INFN), in Italy. The ...CUORE detector consists of 988 crystals operated as source and detector at a base temperature of
∼
10
mK. Such cryogenic temperature is reached and maintained by means of a custom built cryogen-free dilution cryostat, designed with the aim of minimizing the vibrational noise and the environmental radioactivity. The primary goal of CUORE is the search for neutrinoless double beta decay of
130
Te
, but thanks to its large target mass and ultra-low background it is suitable for the study of other rare processes as well, such as the neutrinoless double beta decay of
128
Te
. This tellurium isotope is an attractive candidate for the search of this process, due to its high natural isotopic abundance of 31.75%. The transition energy at (866.7 ± 0.7) keV lies in a highly populated region of the energy spectrum, dominated by the contribution of the two-neutrino double beta decay of
130
Te
. As the first ton-scale infrastructure operating cryogenic
TeO
2
bolometers in stable conditions, CUORE is able to achieve a factor
>
10
higher sensitivity to the neutrinoless double beta decay of this isotope with respect to past direct experiments.
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