Fabry disease exhibiting recurrent stroke and persistent inflammation.

We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy. Both exhibited chronic inflammation and ocular involvement with elevated levels of serum C reactive protein prior to the onset of stroke. We, therefore, suggest the association among persistent inflammation, ocular involvement and recurrent stroke in a certain subset of Fabry disease patients.

Naked plasmid DNA-based alpha-galactosidase A gene transfer partially reduces systemic accumulation of globotriaosylceramide in Fabry mice.

Fabry disease is an X-linked recessive inborn metabolic disorder in which a deficiency in lysosomal enzyme alpha-galactosidase A (Gal A) causes the systemic accumulation of globotriaosylceramide (Gb3). Although many investigators have attempted to treat alpha-Gal A knock-out mice (Fabry mice) with gene therapy, no report has demonstrated therapeutic effects by the retrograde renal vein injection of naked DNA. We recently developed a naked plasmid vector-mediated kidney-targeted gene transfer technique.

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.

Rapid detection of causative pathogen of peritonitis using in-situ hybridization in a patient with continuous ambulatory peritoneal dialysis.

Continuous ambulatory peritoneal dialysis (CAPD) peritonitis is a common problem in patients on peritoneal dialysis, and the bacteriological diagnosis is important for the treatment of this condition. We used Hybrizep (a method for detecting the genes of bacteria ingested in phagocytes), to detect the causative bacterium in a 50-year-old woman receiving peritoneal dialysis who was admitted our hospital with bacterial peritonitis. The test, using peritoneal dialysis fluid, was positive for Streptococcus epidermidis.

Effects of viral interleukin 10 introduced by in vivo electroporation on arthrogen-induced arthritis in mice.

Objective: Viral interleukin 10 (vIL-10) has a variety of immunomodulatory properties. We examined the applicability of vIL-10 gene transfer to the treatment of mice with arthrogen-collagen-induced arthritis (CIA), which is induced by anti-type II collagen antibodies.

Methods: One day after anti-type II collagen antibodies were injected into mice, 400 microg of plasmid DNA expressing vIL-10 (pCAGGS-vIL-10) was injected into the bilateral tibialis anterior muscles followed by in vivo electroporation consisting of four 50-ms electric pulses of 100 V (pCAGGS-vIL-10 mice).

Sustained transgene expression in rat kidney with naked plasmid DNA and PCR-amplified DNA fragments.

Recently, we developed a kidney-targeted gene transfer technique, in which naked DNA was injected into the renal vein while the renal vein and artery were clamped. Kidney-targeted DNA transfer with only the renal vein clamped is an important modification that may permit less invasive catheter-based gene transfer in future clinical applications. The preparation of PCR-amplified DNA fragments is less time-consuming than that of naked plasmid DNA.