Soft Tissues: Lipoblastoma with t(2;8)(q31;q12.1) COL3A1/PLAG1

Review on lipoblastoma with t(2;8)(q31;q12.1) COL3A1/PLAG1, with data on clinics, and the genes involved

A flexible sequential learning deficit in patients with Parkinson’s disease: a 2 × 8 button-press task

A 2 × 8 button-press task is a sequential hand movement task in which subjects are required to press eight pairs of buttons as accurately and quickly as possible. The 2 × 8 task allows us to examine flexible sequential learning, more aptly called sequence-unselective learning. Sequence-unselective learning is observed after repeated experiences with the task, when subjects have shown good progress in learning, with new sequences as well as previously learned ones. Although cognitive inflexibility has been reported in patients with Parkinson’s disease (PD), there have been few studies investigating their flexibility in sequential learning. We examined PD patients’ ability for sequence-unselective learning through the use of a 2 × 8 button-press task. In the first session, PD patients and subjects from the control group performed a sequential 2 × 8 task until the learning criterion was fulfilled (Session 1). After 1 month, they participated in other sessions: one involving the learned sequence (Session 2) and another involving the new sequence (Session 3). We found that PD patients made more errors than the normal control subjects only when learning the new sequence (Session 3) (P < 0.01). In Session 3, control subjects reached the learning target with fewer errors than in the Session 1 (normal sequence-unselective learning), whereas the PD patients did not exhibit such an improvement. Our results revealed a sequence-unselective deficit in PD patients. The deficit may help to emphasize the cognitive and physical inflexibility of PD

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

横紋筋肉腫におけるゲノム・エピゲノム異常の全体図を解明 -横紋筋肉腫を4群に分類-. 京都大学プレスリリース. 2015-07-03.Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in childhood. Here we studied 60 RMSs using whole-exome/-transcriptome sequencing, copy number (CN) and DNA methylome analyses to unravel the genetic/epigenetic basis of RMS. On the basis of methylation patterns, RMS is clustered into four distinct subtypes, which exhibits remarkable correlation with mutation/CN profiles, histological phenotypes and clinical behaviours. A1 and A2 subtypes, especially A1, largely correspond to alveolar histology with frequent PAX3/7 fusions and alterations in cell cycle regulators. In contrast, mostly showing embryonal histology, both E1 and E2 subtypes are characterized by high frequency of CN alterations and/or allelic imbalances, FGFR4/RAS/AKT pathway mutations and PTEN mutations/methylation and in E2, also by p53 inactivation. Despite the better prognosis of embryonal RMS, patients in the E2 are likely to have a poor prognosis. Our results highlight the close relationships of the methylation status and gene mutations with the biological behaviour in RMS

Required muscle mass for preventing lifestyle-related diseases in Japanese women

Research articl

Two genetic variants of CD38 in subjects with autism spectrum disorder and controls

金沢大学医薬保健研究域医学系The neurobiological basis of autism spectrum disorder (ASD) remains poorly understood. Given the role of CD38 in social recognition through oxytocin (OT) release, we hypothesized that CD38 may play a role in the etiology of ASD. Here, we first examined the immunohistochemical expression of CD38 in the hypothalamus of post-mortem brains of non-ASD subjects and found that CD38 was colocalized with OT in secretory neurons. In studies of the association between CD38 and autism, we analyzed 10 single nucleotide polymorphisms (SNPs) and mutations of CD38 by re-sequencing DNAs mainly from a case-control study in Japan, and Caucasian cases mainly recruited to the Autism Genetic Resource Exchange (AGRE). The SNPs of CD38, rs6449197 (p 70; designated as high-functioning autism (HFA)) in the U.S. 104 AGRE family trios, but not with Japanese 188 HFA subjects. A mutation that caused tryptophan to replace arginine at amino acid residue 140 (R140W; (rs1800561, 4693C>T)) was found in 0.6-4.6% of the Japanese population and was associated with ASD in the smaller case-control study. The SNP was clustered in pedigrees in which the fathers and brothers of T-allele-carrier probands had ASD or ASD traits. In this cohort OT plasma levels were lower in subjects with the T allele than in those without. One proband with the T allele who was taking nasal OT spray showed relief of symptoms. The two variant CD38 poloymorphysms tested may be of interest with regard of the pathophysiology of ASD. © 2010 Elsevier Ireland Ltd and the Japan Neuroscience Society

Experimental Physiology

Resistance training in men is associated with increased arterial stiffness and blood pressure but does not adversely affect endothelial function as measured by arterial reactivity to the cold pressor test Resistance training is a popular mode of exercise, but may result in stiffening of the central arteries. Changes in carotid artery diameter were determined using the cold pressor test (CPT), which results in production of nitric oxide via sympathetic activation and is one of the novel methods available for assessing endothelial function in the carotid artery. To investigate the effect of resistance training on endothelial function, we designed a cross-sectional study of carotid arterial vasoreactivity to CPT in men participating in regular resistance training with increased carotid arterial stiffness compared with age-matched control subjects. Twelve resistance-trained middle-aged men (age 38.7 ± 1.7 years) and 17 age-matched control subjects (age 36.8 ± 1.2 years) were studied. The direction and magnitude of changes in carotid artery diameter were measured by B-mode ultrasonography during sympathetic stress induced by submersion of the foot in ice slush for 90 s. Carotid arterial β-stiffness index, and systolic and mean arterial blood pressure were higher (7.7 ± 0.7 versus 6.0 ± 0.4 arbitrary units, 116 ± 2 versus 131 ± 4 mmHg and 86 ± 2 versus 95 ± 2 mmHg, respectively, all P &lt; 0.05) in the resistance training group compared with control subjects. There were, however, no significant differences in the amount or percentage change in carotid artery diameter in CPT between the two groups (resistance training group, 0.33 ± 0.07 mm and 5.2 ± 1.1%; control group, 0.37 ± 0.06 mm and 5.8 ± 0.9%, respectively). These findings suggest that while carotid arterial stiffening and higher blood pressure are observed in regular resistance-trained men, these are not associated with abnormalities in carotid arterial vasoreactivity to sympathetic stimulus, which implies intact endothelial function