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The Vascular Endothelium and Human Diseases
In this review the main endothelial abnormalities found in various human diseases such as cancer, diabetes mellitus, atherosclerosis, and viral infections are addressed.
Mitochondrial DNA Haplogroup D4a Is a Marker for Extreme Longevity in Japan
This study confirms the correlations observed in a previous study showing enrichment of a hierarchy of haplogroups in the D clade for longevity and finds no signal for a functional mtDNA SNP correlated with longevity.
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes
MNGIE is a recognizable clinical syndrome caused by mutations in TP, and reduction of circulating thymidine and deoxyuridine in MNGIE patients may be therapeutic.
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.
It is hypothesized that, in patients with TP deficiency, increased levels of dThd and dUrd cause mitochondrial nucleotide pool imbalances, which, in turn, lead to mtDNA abnormalities including site-specific point mutations.
Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians.
Multivariate logistic-regression analysis with adjustment for age and sex revealed that the mitochondrial haplogroup N9a was significantly associated with resistance against type 2 diabetes mellitus (T2DM), suggesting that even in the modern environment, which is often characterized by satiety and physical inactivity, this haplogroups might confer resistance against T2DM.
Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males
The data suggest that haplogroup N9b confers resistance against myocardial infarction in Japanese males, and there were trends towards higher prevalence of the disease in haplogroups G1 for males (P < 0.05) and G1-related associations were detected for females.
Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population
It is argued that if a selection for longevity appeared only once, it was probably an autosomal event which could be dated to after the appearance of the D mega-group but before the coalescent time of D4a, D5, and D4b2b.
Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia.
To test the hypothesis that mitochondrial DNA (mtDNA) variants contribute to the susceptibility to schizophrenia, we sequenced the entire mtDNAs from 93 Japanese schizophrenic patients. Three
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
A diagnostic algorithm based on the determination of plasma dThd and dUrd, TP activity in buffy coat, or both to make a definitive diagnosis of MNGIE is proposed.
Association of genetic variants with myocardial infarction in Japanese individuals with metabolic syndrome.
Determination of genotypes for these polymorphisms of UTS2, FABP2, ADIPOQ, EDNRA, and PDX1 may prove informative for assessment of the genetic risk for MI in Japanese individuals with MetS.