A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.

BACKGROUND: Fabry disease is an X-linked recessive disorder resulting from a deficiency of lysosomal alpha-galactosidase A (alpha-Gal A). Chronic renal failure is an important cause of death in patients with Fabry disease. We report on patients with Fabry disease (a hemizygous male and his mother) due to a nonsense mutation (R220X) in the alpha-Gal A gene. METHODS: The proband, a 41-year-old man, and his 71-year-old mother presented with renal and cardiac manifestations of Fabry disease. Histological examination and molecular analysis of the alpha-Gal A gene were performed. RESULTS: Typical histological findings of Fabry disease were observed in a renal biopsy specimen from the proband and in renal and myocardial necropsy specimens from the mother. Sequencing of a full-length alpha-Gal A cDNA from the proband indicated a C-T transition at codon 220, resulting in substitution of the predictable termination for arginine (R220X). Examination of genomic alpha-Gal A DNA revealed that the proband was a hemizygote and the mother was a heterozygous carrier for the mutation. CONCLUSION: This is the first detailed report of family members with Fabry disease due to a nonsense mutation (R220X) in the alpha-Gal A gene. Our study indicates that this mutation causes the typical disease in both genders.

Analyses of microbial community within a composter operated using household garbage with special reference to the addition of soybean oil.

A commercially available composter was operated using fixed composition of garbage with or without the addition of soybean oil. The composter was operated without adding seed microorganisms or bulking materials. Microflora within the composter were analyzed by denaturing gradient gel electrophoresis (DGGE) in the case of oil addition, or by 16/18 S rRNA gene sequencing of the isolated microorganisms in the case of no oil addition. The results showed that, irrespective of the addition of oil, the bacteria identified were all gram positive, and that lactobacilli seemed to be the key microorganisms. Based on the results, suitable microflora for use in a household composter are discussed.

Effectiveness of functional ankle taping for judo athletes: a comparison between judo bandaging and taping.

This study was conducted to compare the effectiveness of the traditional method of ankle bandaging and the new method of ankle taping for judo athletes in Japan, and to introduce a functionally effective taping method for judo players. Four university judo athletes with ankle instability were selected to undertake radiography of the ankles before and after exercise, with bandaging at one time and taping at the other. Talar tilt (TT) angles were measured in order to compare the ankle-supporting effects. The results showed that the old ankle bandaging method had no role in eliminating the talar tilt during judo practice. In contrast, the new taping method was more effective in eliminating the talar tilt and supporting the involved ankles both mechanically and functionally.

Effect of transplantation of the foetal testis to neonatal female rats on differentiation of the postpubertal secretory pattern of gonadotrophin.

Rat foetal testes (day 19 or 20 pregnancy) were transplanted into the neck of 3-day-old female rats. When testicular grafts were left in the recipients until autopsy (at 90 days of age), anovulatory persistent oestrous syndrome developed in most of the recipient females. These changes were not influenced by the removal at 45 days of age of the testicular grafts. However, the incidence of anovulatory sterility was significantly reduced when the foetal testicular grafts had been removed 5 days after transplantation. Treatment of these recipient females with 40 IU HCG from the day of the transplantation to the day before the removal of the transplants markedly increased the incidence of anovulatory sterility in the recipient females. In histological examinations of the testicular grafts upon their removal, a significant stimulation of Leydig cell elements was noted in the groups of rats treated with HCG. It is highly probable that if sufficient levels of gonadotrophin (GTH) are present in the recipient females, testicular tissues from day 18-20 foetuses can secrete sufficient amounts of androgen for masculinizing GTH regulation.