PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.

This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method. We identified 21 patients with 18 rare variants, such that 1, 9, and 11 patients were homozygous, heterozygous, and compound heterozygous, respectively, with respect to PLA2G6 variants. The allele frequency was approximately equal between patients with familial PD and those with sporadic PD. The PLA2G6 variants detected frequently were identified in the early-onset sporadic PD group. Patients who were homozygous for a variant showed more severe symptoms than those who were heterozygous for the variant. The most common variant was p.R635Q in our cohort, which was considered a risk variant for PD. Thus, the variants of PLA2G6 may play a role in familial PD and early-onset sporadic PD.

Cadaverine turnover in soybean seedlings using 15N-labelled lysine and cadaverine.

The synthesis and translocation of the diamine cadaverine during soybean (Glycine max L. Meer cv. Sakai) germination were studied using 15N-labelled lysine (the cadaverine precursor) and 15N-labelled cadaverine, both under light/dark (12 h/12 h) and total dark germinating conditions. 15N-cadaverine and non-labelled polyamines were simultaneously detected using ionspray ionization-mass spectrometry. Both 15N-cadaverine and 15N-lysine were taken up by soybean. 15N-lysine was transported to the shoot and root and converted into 15N-cadaverine, whereas relatively little 15N-cadaverine was formed from 15N-lysine in the cotyledon. The acropetal translocation of 15N-cadaverine from the cotyledon to the shoot seemed to predominate over basipetal transport to the root. Although no other 15N-derivatised polyamines were found, supplying exogenous 15N-lysine seemed to indirectly affect the metabolism of 14N putrescine, spermidine and spermine, while no significant effect was detected after supplying 15N-cadaverine.

Analysis of polyamine metabolism in soybean seedlings using 15N-labelled putrescine.

The translocation and metabolism of polyamines during soybean germination were studied using 15N-labelled putrescine as a precursor. Both 15N-labelled and unlabelled polyamines were simultaneously detected using a novel application of ionspray ionization-mass spectrometry. 15N-putrescine was rapidly transported to the shoots and roots, where it was converted to spermidine and spermine. The main 15N-polyamine that accumulated in the root was 15N-spermine. It was found that there were differences in the way endogenous putrescine and exogenous 15N-putrescine were metabolized in soybean seedlings.

Apoptosis in the epididymal epithelium of adult male golden hamster exposed to diethylstilbestrol.

Apoptosis in the testis and prostate exposed to disrupters of endocrine function, including diethylstilbestrol (DES), during neonatal or postnatal periods has repeatedly been demonstrated, but not in the mature epididymis. We investigated the effects of DES, a potent and synthetic estrogen, on apoptosis in the adult. Adult male golden hamsters received an SC injection of DES and were then sacrificed to collect epididymides after 1, 4, or 7 days of treatment. A significant decrease in epididymal weight and an increase in apoptotic cells were shown on the first day after DES injection. Flow cytometry showed that DES treatment (1 mg/kg) for 1, 4, or 7 days induced significant apoptosis both in the caput and the cauda epididymides. Greater numbers of apoptotic cells were detected in the caput than in the cauda at a fixed time after DES treatment. Serum levels of testosterone decreased markedly within 24 hr after DES administration, reaching undetectable levels of 0.1 ng/ml at 4 days and thereafter. These results indicate that DES administration can increase epididymal apoptosis with a decrease in serum testosterone levels. Because DES used to be injected into domestic animals, adult males also have a chance to take this substance through food. Our study indicates that exposure to DES in adults is as toxic as that in the perinatal period.

Effect of diethylstilbestrol on polyamine metabolism in hamster epididymis.

AIM: To investigate the effect of diethylstilbestrol (DES), one of the most potent endocrine disruptors, on the metabolism of polyamines in hamster epididymis. METHODS: Male golden hamsters of 7-week-old were kept under a light and dark cycle of 14 h and 10 h for 1 week to stimulate maximally the gonadal function. DES was injected subcutaneously at doses of 0.01 mg . kg(-1) . day(-1), 0.1 mg . kg(-1) . day(-1) and 1 mg . kg(-1) . day(-1) for one week. RESULTS: DES treatment caused a significant decrease in the weight of epididymis. The activity of epididymal ornithine decarboxylase (ODC) increased 1 day after DES treatment, kept at a high level for 4 days and then decreased to nearly normal level at day 7. The activity of spermidine/spermine N1-acetyltransferase (SSAT) also increased transiently after DES treatment. The contents of putrescine, spermidine, spermine and N(1)-acetylspermidine were increased 1 day approximately 4 days after DES treatment and restored to normal at day 7. All these changes showed a marked difference between the caput and the cauda. CONCLUSION: The polyamine biosynthesis in the hamster epididymis can be affected by DES, a xenoestrogen. DES may probably affect polyamine metabolism in the epididymis by regulating the rate-limiting enzymes involved in the polyamine biosynthesis.

Factor structure of a modified version of the wisconsin card sorting test: an analysis of executive deficit in Alzheimer's disease and mild cognitive impairment.

In order to explore the factor structure of a modified version of the Wisconsin Card Sorting Test (mWCST) and to identify the dimensions of deficit in patients with Alzheimer's disease (AD) and mild cognitive impairment (MCI), conventional mWCST scores in 55 AD patients, 17 MCI patients, and 22 controls were subjected to factor analysis. Three factors, perseveration, inefficient sorting, and nonperseverative error, were obtained. Perseveration score was significantly poorer in both AD and MCI than in controls. By contrast, the MCI group showed significantly poorer scores on the nonperseverative error factor than did the AD patients, and the controls yielded intermediate values between the two patient groups. The perseveration factor was significantly correlated with the other estimates of executive function. This study suggested that the many mWCST scores could be reduced to three major factors, and that the perseveration score may effectively represent an aspect of executive dysfunction in AD and MCI patients.

Acid phosphatases as markers of bone metabolism.

Various biochemical markers have been used to assess bone metabolism and to monitor the effects of treatments. Tartrate resistant acid phosphatase (TRAP; EC 3.1.3.2) has often been used to assess bone absorption. Although osteoclasts contain abundant TRAP and they are responsible for bone resorption, the total TRAP activities in the serum measured by colorimetric methods little reflect the bone turnover. TRAP 5 is further separated into 5a and 5b by electrophoresis. Type 5b is considered to be derived from the osteoclast, and therefore attempts are being made to measure exclusively serum TRAP 5b by kinetic methods, immunological methods, and chromatographic methods including ion-exchange and heparin column chromatography.