Publications by authors named "Kayoko Saiki"

Spinal muscular atrophy (SMA) is caused by loss of SMN1. A nearly identical gene, SMN2, fails to compensate for the loss of SMN1 because SMN2 produces mainly an exon 7-skipped product. The +6C in SMN1 exon 7 proceeds to include exon 7 into mRNA, while the +6U in SMN2 causes skipping of exon 7.

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Background: N-acetyl Proline-Glycine-Proline (acPGP) is a novel neutrophil chemoattractant. However, no studies have been reported to identify the presence of acPGP in human serum. The purpose of our study was to establish a method for measuring acPGP, and to determine whether acPGP is present in human serum.

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Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Although a combination of molecular methods have been used including DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene, only approximately 80% of patients with OTC deficiency are found to have mutations. We report two known and three novel mutations of the OTC gene in five Japanese patients including two neonatal-onset, one late-onset, and two symptomatic female patients.

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Lysophosphatidylcholine (LPC) has various stimulatory effects on many types of immune cells. The purpose of our study was to characterize blood LPC levels and to determine the composition of LPC molecular species (LPCs) in the neonatal period. Thirty-six neonates were enrolled in this study and then grouped according to birth-weight as follows: non-very low birth weight (NVLBW); >or=1,500 g (n=17), and very low birth weight (VLBW); <1,500 g (n=19).

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Background: Myostatin is a negative regulator of skeletal muscle growth. Truncating mutations in the myostatin gene have been reported to result in gross muscle hypertrophy. Duchenne muscular dystrophy (DMD), the most common lethal muscle wasting disease, is a result of an absence of muscle dystrophin.

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We established an improved method for quantification of phosphatidylcholine (PC) and lysophosphatidylcholine (LPC) molecular species in neonatal serum using high-performance liquid chromatography coupled tandem mass spectrometry (LC-MS/MS). A multiple reaction monitoring (MRM) mode of positive ionization for MS/MS was used. The method involved purification of phospholipids by solid phase extraction (SPE) from a 20-microl minimum specimen of serum.

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Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Here, we report a novel mechanism for the occurrence of DMD in females. In a Vietnamese DMD girl, conventional PCR amplification analysis disclosed a deletion of exons 12-19 of the dystrophin gene on Xp21.

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Article Synopsis
  • - The study investigates how mutations in the UGT1A1 gene affect its ability to process substances like estradiol and bilirubin through a method called liquid chromatography-tandem mass spectrometry (LC/MS/MS).
  • - Researchers looked at specific mutations (G71R, F83L, I322V, G493R) and found that their enzymatic activities were significantly lower than normal, with G493R showing only 0.6% activity.
  • - Utilizing LC/MS/MS allowed the team to accurately measure how these mutations impacted the UGT1A1's effectiveness in forming estradiol glucuronides.
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Near-infrared spectroscopy (NIRS) was used to measure frontal regional cerebral blood volume (rCBV) in a person whose brain was under the influence of pharmacological agents while the person was performing a complex task. Fourteen healthy participants were administered Uchida-Kraepelin psychodiagnostic (UKP) tests before and after caffeine intake, and the concentration of caffeine in the urine was measured. The average number of answers and the average number of correct answers given by the participants improved significantly following caffeine intake.

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