Development of a low-alpha-emitting {\mu}-PIC for NEWAGE direction-sensitive dark-matter search

NEWAGE is a direction-sensitive dark-matter-search experiment that uses a micro-patterned gaseous detector, or {\mu}-PIC, as the readout. The main background sources are {\alpha}-rays from radioactive contaminants in the {\mu}-PIC. We have therefore developed a low-alpha-emitting {\mu}-PICs and measured its performances. We measured the surface {\alpha}-ray emission rate of the {\mu}-PIC in the Kamioka mine using a surface {\alpha}-ray counter based on a micro TPC.Comment: 6 pages, 4 figure

MPGD simulation in negative-ion gas for direction-sensitive dark matter searches

Negative-ion time projection chambers (NITPCs) provide the absolute z-position from the arrival-times’ difference of several species of negative-ions. This is a strong background reduction method for rare event searches, such as direct dark mater searches. The characteristics of micro pattern gaseous detectors (MPGDs) in negative-ion gas were studied by both experiments and simulations to develop an NITPC for dark matter search experiments. An MPGD simulation method for the negative-ion gas with Garfield++, which has not yet been established, was developed. We present herein the MPGD simulation results in negative-ion gas, SF6 gas, together with the experimental results, such as gain, energy resolution, and signal creation from the MPGD for future NITPC optimization.Negative-ion time projection chambers (NITPCs) provide the absolute z-position from the arrival-times' difference of several species of negative-ions. This is a strong background reduction method for rare event searches, such as direct dark mater searches. The characteristics of micro pattern gaseous detectors (MPGDs) in negative-ion gas were studied by both experiments and simulations to develop an NITPC for dark matter search experiments. An MPGD simulation method for the negative-ion gas with Garfield++, which has not yet been established, was developed. We present herein the MPGD simulation results in negative-ion gas, $\mathrm{SF_{6}}$ gas, together with the experimental results, such as gain, energy resolution, and signal creation from the MPGD for future NITPC optimization

Development of a low-background micro pixel chamber for directional dark matter searches

Direct detection of weakly interacting massive particles (WIMPs) can provide strong evidence of their existence and the directional method would have an advantage over other methods to detect the clear signal of WIMPs. Time projection chambers with micro-patterned gaseous detectors (MPGDs) are one of the common devices used in directional WIMP searches. A micro pixel chamber ($\mu$-PIC), one of the various types of MPGDs, with specially selected low background materials (LBG$\mu$-PIC) was developed and its performance was studied. The radon emission of the LBG$\mu$-PIC was less than 1/60 of that of the $\mu$-PIC currently in use. Although a non-negligible gain non-homogeneity was seen for the LBG$\mu$-PIC, it can be used for the directional WIMP search with the correction of the non-homogeneity.Comment: 18 pages, 14 figures, submitted to NIM

Variants associated with Gaucher disease in multiple system atrophy

International audienceObjective : Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case–control series.Methods : We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 European, and 172 North American) and 1509 control subjects (900 Japanese, 315 European, and 294 North American). We focused solely on Gaucher-disease-causing GBA variants.Results : In the Japanese series, we found nine carriers among the MSA patients (1.65%) and eight carriers among the control subjects (0.89%). In the European series, we found three carriers among the MSA patients (1.35%) and two carriers among the control subjects (0.63%). In the North American series, we found five carriers among the MSA patients (2.91%) and one carrier among the control subjects (0.34%). Subjecting each series to a Mantel–Haenszel analysis yielded a pooled odds ratio (OR) of 2.44 (95% confidence interval [CI], 1.14–5.21) and a P-value of 0.029 without evidence of significant heterogeneity. Logistic regression analysis yielded similar results, with an adjusted OR of 2.43 (95% CI 1.15–5.37) and a P-value of 0.022. Subtype analysis showed that Gaucher-disease-causing GBA variants are significantly associated with MSA cerebellar subtype (MSA-C) patients (P = 7.3 × 10−3).Interpretation : The findings indicate that, as in PD and DLB, Gaucher-disease-causing GBA variants are associated with MSA

Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration

Background: Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely considered to be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement of genetic components. Methods: In combination with linkage analysis, we performed whole-genome sequencing of a sample obtained from a member of a multiplex family in whom multiple-system atrophy had been diagnosed on autopsy. We also performed mutational analysis of samples from members of five other multiplex families and from a Japanese series (363 patients and two sets of controls, one of 520 persons and one of 2383 persons), a European series (223 patients and 315 controls), and a North American series (172 patients and 294 controls). On the basis of these analyses, we used a yeast complementation assay and measured enzyme activity of parahydroxybenzoate-polyprenyl transferase. This enzyme is encoded by the gene COQ2 and is essential for the biosynthesis of coenzyme Q10. Levels of coenzyme Q10 in lymphoblastoid cells and brain tissue were measured on high-performance liquid chromatography. Results: We identified a homozygous mutation (M78V-V343A/M78V-V343A) and compound heterozygous mutations (R337X/V343A) in COQ2 in two multiplex families. Furthermore, we found that a common variant (V343A) and multiple rare variants in COQ2, all of which are functionally impaired, are associated with sporadic multiple-system atrophy. The V343A variant was exclusively observed in the Japanese population. Conclusions: Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role of impaired COQ2 activities in the pathogenesis of this disease.12 page(s